Canonical Allele Identifier: CA2729050340
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs2138687775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433996C>T , CM000676.2:g.23433996C>T GRCh38
NC_000014.8:g.23903205C>T , CM000676.1:g.23903205C>T GRCh37
NC_000014.7:g.22973045C>T NCBI36
NG_007884.1:g.6666G>A , LRG_384:g.6666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-9+198G>A MANE Select ENSP00000347507.3:n.-9+198G>A
ENST00000355349.3:c.-9+198G>A ENSP00000347507.3:n.-9+198G>A
NM_000257.3:c.-9+198G>A NP_000248.2:n.-9+198G>A
XR_245686.3:n.98+198G>A
XM_017021340.1:c.-8-256G>A XP_016876829.1:n.-8-256G>A
NM_000257.4:c.-9+198G>A MANE Select NP_000248.2:n.-9+198G>A
Search 100 bp 5'
Search 100 bp 3'