Canonical Allele Identifier: CA613318165

Gene: MYH7

Linked Data

• dbSNP Id: rs1250610012
• gnomAD v2: 14-23902964-A-G
• gnomAD v4: 14-23433755-A-G
• MyVariant Identifiers: chr14:g.23902964A>G (hg19) ; chr14:g.23433755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23433755A>G , CM000676.2:g.23433755A>G	GRCh38
NC_000014.8:g.23902964A>G , CM000676.1:g.23902964A>G	GRCh37
NC_000014.7:g.22972804A>G	NCBI36
NG_007884.1:g.6907T>C , LRG_384:g.6907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.-8-15T>C MANE Select	ENSP00000347507.3:n.-8-15T>C
ENST00000355349.3:c.-8-15T>C	ENSP00000347507.3:n.-8-15T>C
NM_000257.3:c.-8-15T>C	NP_000248.2:n.-8-15T>C
XR_245686.3:n.99-15T>C
XM_017021340.1:c.-8-15T>C	XP_016876829.1:n.-8-15T>C
NM_000257.4:c.-8-15T>C MANE Select	NP_000248.2:n.-8-15T>C