Canonical Allele Identifier: CA012953
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14097
ClinVar RCV Id: RCV000015153 RCV000035820 RCV000078452 RCV000247943 RCV000458449 RCV001177579
dbSNP Id: rs121913631
gnomAD v2: 14-23893316-G-C
gnomAD v3: 14-23424107-G-C
gnomAD v4: 14-23424107-G-C
MyVariant Identifiers: chr14:g.23893316G>C (hg19) chr14:g.23424107G>C (hg38)
ERepo: CA012953/MONDO:0005045/002
PubMed: PMID:1638703 PMID:7731997 PMID:8435239 PMID:8483915 PMID:8514894 PMID:11227787 PMID:12473556 PMID:12975413 PMID:15358028 PMID:15528230 PMID:15858117 PMID:18403758 PMID:21642240 PMID:23891399 PMID:24510615 PMID:25351510 PMID:26914223 PMID:27247418 PMID:27532257 PMID:28606303 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424107G>C , CM000676.2:g.23424107G>C GRCh38
NC_000014.8:g.23893316G>C , CM000676.1:g.23893316G>C GRCh37
NC_000014.7:g.22963156G>C NCBI36
NG_007884.1:g.16555C>G , LRG_384:g.16555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2722C>G MANE Select ENSP00000347507.3:p.Leu908Val
ENST00000355349.3:c.2722C>G ENSP00000347507.3:p.Leu908Val
NM_000257.3:c.2722C>G NP_000248.2:p.Leu908Val
XR_245686.3:n.2828C>G
XM_017021340.1:c.2722C>G XP_016876829.1:p.Leu908Val
NM_000257.4:c.2722C>G MANE Select NP_000248.2:p.Leu908Val
Search 100 bp 5'
Search 100 bp 3'