Canonical Allele Identifier: CA027806

Gene: MYH7

Linked Data

• ClinVar Variation Id: 380650
• ClinVar RCV Id: RCV000435665 ; RCV000548210 ; RCV001524329 ; RCV002282140 ; RCV004022330
• dbSNP Id: rs758659692
• ExAC: 14:23902931 G / A
• gnomAD v2: 14-23902931-G-A
• gnomAD v3: 14-23433722-G-A
• gnomAD v4: 14-23433722-G-A
• COSMIC: COSM124613
• MyVariant Identifiers: chr14:g.23902931G>A (hg19) ; chr14:g.23433722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23433722G>A , CM000676.2:g.23433722G>A	GRCh38
NC_000014.8:g.23902931G>A , CM000676.1:g.23902931G>A	GRCh37
NC_000014.7:g.22972771G>A	NCBI36
NG_007884.1:g.6940C>T , LRG_384:g.6940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.11C>T MANE Select	ENSP00000347507.3:p.Ser4Leu
ENST00000355349.3:c.11C>T	ENSP00000347507.3:p.Ser4Leu
NM_000257.3:c.11C>T	NP_000248.2:p.Ser4Leu
XR_245686.3:n.117C>T
XM_017021340.1:c.11C>T	XP_016876829.1:p.Ser4Leu
NM_000257.4:c.11C>T MANE Select	NP_000248.2:p.Ser4Leu