Canonical Allele Identifier: CA485627127
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111999
ClinVar RCV Id: RCV001438796
dbSNP Id: rs766100117
gnomAD v4: 14-23433586-G-A
MyVariant Identifiers: chr14:g.23902795G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433586G>A , CM000676.2:g.23433586G>A GRCh38
NC_000014.8:g.23902795G>A , CM000676.1:g.23902795G>A GRCh37
NC_000014.7:g.22972635G>A NCBI36
NG_007884.1:g.7076C>T , LRG_384:g.7076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.147C>T MANE Select ENSP00000347507.3:p.Ala49=
ENST00000355349.3:c.147C>T ENSP00000347507.3:p.Ala49=
NM_000257.3:c.147C>T NP_000248.2:p.Ala49=
XR_245686.3:n.253C>T
XM_017021340.1:c.147C>T XP_016876829.1:p.Ala49=
NM_000257.4:c.147C>T MANE Select NP_000248.2:p.Ala49=
Search 100 bp 5'
Search 100 bp 3'