Canonical Allele Identifier: CA013327
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 191731
ClinVar RCV Id: RCV000172048 RCV000609062
dbSNP Id: rs200714763
gnomAD v2: 14-23892800-T-C
gnomAD v4: 14-23423591-T-C
MyVariant Identifiers: chr14:g.23892800T>C (hg19) chr14:g.23423591T>C (hg38)
PubMed: PMID:15769782 PMID:23861362 PMID:25342278
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423591T>C , CM000676.2:g.23423591T>C GRCh38
NC_000014.8:g.23892800T>C , CM000676.1:g.23892800T>C GRCh37
NC_000014.7:g.22962640T>C NCBI36
NG_007884.1:g.17071A>G , LRG_384:g.17071A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3055A>G MANE Select ENSP00000347507.3:p.Thr1019Ala
ENST00000355349.3:c.3055A>G ENSP00000347507.3:p.Thr1019Ala
NM_000257.3:c.3055A>G NP_000248.2:p.Thr1019Ala
XR_245686.3:n.3161A>G
XM_017021340.1:c.3055A>G XP_016876829.1:p.Thr1019Ala
NM_000257.4:c.3055A>G MANE Select NP_000248.2:p.Thr1019Ala
Search 100 bp 5'
Search 100 bp 3'