Canonical Allele Identifier: CA011779
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14104
ClinVar RCV Id: RCV000158512 RCV000241836 RCV000758071 RCV001170501 RCV001194067 RCV001594372 RCV002496366 RCV000015160
dbSNP Id: rs121913637
gnomAD v2: 14-23895180-G-A
gnomAD v3: 14-23425971-G-A
gnomAD v4: 14-23425971-G-A
COSMIC: COSM403676
MyVariant Identifiers: chr14:g.23895180G>A (hg19) chr14:g.23425971G>A (hg38)
PubMed: PMID:7731997 PMID:7874131 PMID:8282798 PMID:9001794 PMID:9154300 PMID:9544842 PMID:9822100 PMID:10882745 PMID:10957787 PMID:11904418 PMID:12084606 PMID:12707239 PMID:12974739 PMID:15000344 PMID:16504640 PMID:19645038 PMID:19651039 PMID:19659763 PMID:20378854 PMID:21310275 PMID:21769673 PMID:21896538 PMID:22429680 PMID:23816408 PMID:24510615 PMID:24888384 PMID:25351510 PMID:25611685 PMID:26912705 PMID:27082122 PMID:27247418 PMID:27532257 PMID:29300372
ERepo: CA011779/MONDO:0005045/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425971G>A , CM000676.2:g.23425971G>A GRCh38
NC_000014.8:g.23895180G>A , CM000676.1:g.23895180G>A GRCh37
NC_000014.7:g.22965020G>A NCBI36
NG_007884.1:g.14691C>T , LRG_384:g.14691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2155C>T MANE Select ENSP00000347507.3:p.Arg719Trp
ENST00000355349.3:c.2155C>T ENSP00000347507.3:p.Arg719Trp
NM_000257.3:c.2155C>T NP_000248.2:p.Arg719Trp
XR_245686.3:n.2261C>T
XM_017021340.1:c.2155C>T XP_016876829.1:p.Arg719Trp
NM_000257.4:c.2155C>T MANE Select NP_000248.2:p.Arg719Trp
Search 100 bp 5'
Search 100 bp 3'