Canonical Allele Identifier: CA049135

Gene: MYH7

Linked Data

• dbSNP Id: rs770217146
• ExAC: 14:23900583 C / G
• gnomAD v2: 14-23900583-C-G
• gnomAD v3: 14-23431374-C-G
• gnomAD v4: 14-23431374-C-G
• MyVariant Identifiers: chr14:g.23900583C>G (hg19) ; chr14:g.23431374C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431374C>G , CM000676.2:g.23431374C>G	GRCh38
NC_000014.8:g.23900583C>G , CM000676.1:g.23900583C>G	GRCh37
NC_000014.7:g.22970423C>G	NCBI36
NG_007884.1:g.9288G>C , LRG_384:g.9288G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.796+44G>C MANE Select	ENSP00000347507.3:n.796+44G>C
ENST00000355349.3:c.796+44G>C	ENSP00000347507.3:n.796+44G>C
NM_000257.3:c.796+44G>C	NP_000248.2:n.796+44G>C
XR_245686.3:n.902+44G>C
XM_017021340.1:c.796+44G>C	XP_016876829.1:n.796+44G>C
NM_000257.4:c.796+44G>C MANE Select	NP_000248.2:n.796+44G>C