Canonical Allele Identifier: CA7116304

Gene: MYH7

Linked Data

• dbSNP Id: rs770816335
• ExAC: 14:23894860 GAA / G
• gnomAD v2: 14-23894860-GAA-G
• MyVariant Identifiers: chr14:g.23894861_23894862del (hg19) ; chr14:g.23425652_23425653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425654_23425655del , CM000676.2:g.23425654_23425655del	GRCh38
NC_000014.8:g.23894863_23894864del , CM000676.1:g.23894863_23894864del	GRCh37
NC_000014.7:g.22964703_22964704del	NCBI36
NG_007884.1:g.15009_15010del , LRG_384:g.15009_15010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2286+42_2286+43del MANE Select	ENSP00000347507.3:n.2286+42_2286+43del
ENST00000355349.3:c.2286+42_2286+43del	ENSP00000347507.3:n.2286+42_2286+43del
NM_000257.3:c.2286+42_2286+43del	NP_000248.2:n.2286+42_2286+43del
XR_245686.3:n.2392+42_2392+43del
XM_017021340.1:c.2286+42_2286+43del	XP_016876829.1:n.2286+42_2286+43del
NM_000257.4:c.2286+42_2286+43del MANE Select	NP_000248.2:n.2286+42_2286+43del