Canonical Allele Identifier: CA028563

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1130516
• ClinVar RCV Id: RCV001464081 ; RCV004007091
• dbSNP Id: rs766100117
• ExAC: 14:23902795 G / C
• gnomAD v2: 14-23902795-G-C
• gnomAD v4: 14-23433586-G-C
• MyVariant Identifiers: chr14:g.23902795G>C (hg19) ; chr14:g.23433586G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.147C>G MANE Select	ENSP00000347507.3:p.Ala49=
ENST00000355349.3:c.147C>G	ENSP00000347507.3:p.Ala49=
NM_000257.3:c.147C>G	NP_000248.2:p.Ala49=
XR_245686.3:n.253C>G
XM_017021340.1:c.147C>G	XP_016876829.1:p.Ala49=
NM_000257.4:c.147C>G MANE Select	NP_000248.2:p.Ala49=