Canonical Allele Identifier: CA389048735

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23894903C>G (hg19) ; chr14:g.23425694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425694C>G , CM000676.2:g.23425694C>G	GRCh38
NC_000014.8:g.23894903C>G , CM000676.1:g.23894903C>G	GRCh37
NC_000014.7:g.22964743C>G	NCBI36
NG_007884.1:g.14968G>C , LRG_384:g.14968G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2286+1G>C MANE Select	ENSP00000347507.3:n.2286+1G>C
ENST00000355349.3:c.2286+1G>C	ENSP00000347507.3:n.2286+1G>C
NM_000257.3:c.2286+1G>C	NP_000248.2:n.2286+1G>C
XR_245686.3:n.2392+1G>C
XM_017021340.1:c.2286+1G>C	XP_016876829.1:n.2286+1G>C
NM_000257.4:c.2286+1G>C MANE Select	NP_000248.2:n.2286+1G>C