Canonical Allele Identifier: CA040392

Gene: MYH7

Linked Data

• ClinVar Variation Id: 647534
• ClinVar RCV Id: RCV000802060 ; RCV001185407 ; RCV002325544 ; RCV002501075
• dbSNP Id: rs767000995
• ExAC: 14:23887491 G / A
• gnomAD v2: 14-23887491-G-A
• gnomAD v3: 14-23418282-G-A
• gnomAD v4: 14-23418282-G-A
• MyVariant Identifiers: chr14:g.23887491G>A (hg19) ; chr14:g.23418282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23418282G>A , CM000676.2:g.23418282G>A	GRCh38
NC_000014.8:g.23887491G>A , CM000676.1:g.23887491G>A	GRCh37
NC_000014.7:g.22957331G>A	NCBI36
NG_007884.1:g.22380C>T , LRG_384:g.22380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4097C>T MANE Select	ENSP00000347507.3:p.Ser1366Leu
ENST00000355349.3:c.4097C>T	ENSP00000347507.3:p.Ser1366Leu
NM_000257.3:c.4097C>T	NP_000248.2:p.Ser1366Leu
XM_017021340.1:c.4097C>T	XP_016876829.1:p.Ser1366Leu
NM_000257.4:c.4097C>T MANE Select	NP_000248.2:p.Ser1366Leu