Canonical Allele Identifier: CA2575486831
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138682048

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431714C>T , CM000676.2:g.23431714C>T GRCh38
NC_000014.8:g.23900923C>T , CM000676.1:g.23900923C>T GRCh37
NC_000014.7:g.22970763C>T NCBI36
NG_007884.1:g.8948G>A , LRG_384:g.8948G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.640-37G>A MANE Select ENSP00000347507.3:n.640-37G>A
ENST00000355349.3:c.640-37G>A ENSP00000347507.3:n.640-37G>A
NM_000257.3:c.640-37G>A NP_000248.2:n.640-37G>A
XR_245686.3:n.746-37G>A
XM_017021340.1:c.640-37G>A XP_016876829.1:n.640-37G>A
NM_000257.4:c.640-37G>A MANE Select NP_000248.2:n.640-37G>A