Canonical Allele Identifier: CA961071168

Gene: MYH7

Linked Data

• dbSNP Id: rs1893056235
• gnomAD v3: 14-23433998-G-A
• gnomAD v4: 14-23433998-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23433998G>A , CM000676.2:g.23433998G>A	GRCh38
NC_000014.8:g.23903207G>A , CM000676.1:g.23903207G>A	GRCh37
NC_000014.7:g.22973047G>A	NCBI36
NG_007884.1:g.6664C>T , LRG_384:g.6664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.-9+196C>T MANE Select	ENSP00000347507.3:n.-9+196C>T
ENST00000355349.3:c.-9+196C>T	ENSP00000347507.3:n.-9+196C>T
NM_000257.3:c.-9+196C>T	NP_000248.2:n.-9+196C>T
XR_245686.3:n.98+196C>T
XM_017021340.1:c.-8-258C>T	XP_016876829.1:n.-8-258C>T
NM_000257.4:c.-9+196C>T MANE Select	NP_000248.2:n.-9+196C>T