Canonical Allele Identifier: CA049117

Gene: MYH7

Linked Data

• dbSNP Id: rs536745869
• ExAC: 14:23900597 G / T
• gnomAD v2: 14-23900597-G-T
• gnomAD v3: 14-23431388-G-T
• gnomAD v4: 14-23431388-G-T
• MyVariant Identifiers: chr14:g.23900597G>T (hg19) ; chr14:g.23431388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431388G>T , CM000676.2:g.23431388G>T	GRCh38
NC_000014.8:g.23900597G>T , CM000676.1:g.23900597G>T	GRCh37
NC_000014.7:g.22970437G>T	NCBI36
NG_007884.1:g.9274C>A , LRG_384:g.9274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.796+30C>A MANE Select	ENSP00000347507.3:n.796+30C>A
ENST00000355349.3:c.796+30C>A	ENSP00000347507.3:n.796+30C>A
NM_000257.3:c.796+30C>A	NP_000248.2:n.796+30C>A
XR_245686.3:n.902+30C>A
XM_017021340.1:c.796+30C>A	XP_016876829.1:n.796+30C>A
NM_000257.4:c.796+30C>A MANE Select	NP_000248.2:n.796+30C>A