Canonical Allele Identifier: CA485766455

Gene: MYH7

Linked Data

• dbSNP Id: rs1390047124
• MyVariant Identifiers: chr14:g.23888816A>G (hg19) ; chr14:g.23419607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419607A>G , CM000676.2:g.23419607A>G	GRCh38
NC_000014.8:g.23888816A>G , CM000676.1:g.23888816A>G	GRCh37
NC_000014.7:g.22958656A>G	NCBI36
NG_007884.1:g.21055T>C , LRG_384:g.21055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3729T>C MANE Select	ENSP00000347507.3:p.Ala1243=
ENST00000355349.3:c.3729T>C	ENSP00000347507.3:p.Ala1243=
NM_000257.3:c.3729T>C	NP_000248.2:p.Ala1243=
XM_017021340.1:c.3729T>C	XP_016876829.1:p.Ala1243=
NM_000257.4:c.3729T>C MANE Select	NP_000248.2:p.Ala1243=