Canonical Allele Identifier: CA2123445458

Gene: MYH7

Linked Data

• dbSNP Id: rs1892382154

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419579_23419580dup , CM000676.2:g.23419579_23419580dup	GRCh38
NC_000014.8:g.23888788_23888789dup , CM000676.1:g.23888788_23888789dup	GRCh37
NC_000014.7:g.22958628_22958629dup	NCBI36
NG_007884.1:g.21082_21083dup , LRG_384:g.21082_21083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3756_3757dup MANE Select	ENSP00000347507.3:p.Glu1253GlyfsTer5
ENST00000355349.3:c.3756_3757dup	ENSP00000347507.3:p.Glu1253GlyfsTer5
NM_000257.3:c.3756_3757dup	NP_000248.2:p.Glu1253GlyfsTer5
XM_017021340.1:c.3756_3757dup	XP_016876829.1:p.Glu1253GlyfsTer5
NM_000257.4:c.3756_3757dup MANE Select	NP_000248.2:p.Glu1253GlyfsTer5