Canonical Allele Identifier: CA016148

Gene: MYH7

Linked Data

• ClinVar Variation Id: 43072
• ClinVar RCV Id: RCV000035967 ; RCV000278217 ; RCV000335514 ; RCV000348305 ; RCV000404590 ; RCV000620704 ; RCV001094079 ; RCV001190870 ; RCV001719729 ; RCV003320086
• dbSNP Id: rs3729831
• ExAC: 14:23884264 G / A
• gnomAD v2: 14-23884264-G-A
• gnomAD v3: 14-23415055-G-A
• gnomAD v4: 14-23415055-G-A
• COSMIC: COSM1300517
• MyVariant Identifiers: chr14:g.23884264G>A (hg19) ; chr14:g.23415055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415055G>A , CM000676.2:g.23415055G>A	GRCh38
NC_000014.8:g.23884264G>A , CM000676.1:g.23884264G>A	GRCh37
NC_000014.7:g.22954104G>A	NCBI36
NG_007884.1:g.25607C>T , LRG_384:g.25607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5499C>T MANE Select	ENSP00000347507.3:p.Asn1833=
ENST00000355349.3:c.5499C>T	ENSP00000347507.3:p.Asn1833=
NM_000257.3:c.5499C>T	NP_000248.2:p.Asn1833=
XM_017021340.1:c.5499C>T	XP_016876829.1:p.Asn1833=
NM_000257.4:c.5499C>T MANE Select	NP_000248.2:p.Asn1833=