Canonical Allele Identifier: CA2123456204
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1267154843
gnomAD v4: 14-23433760-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433760G>T , CM000676.2:g.23433760G>T GRCh38
NC_000014.8:g.23902969G>T , CM000676.1:g.23902969G>T GRCh37
NC_000014.7:g.22972809G>T NCBI36
NG_007884.1:g.6902C>A , LRG_384:g.6902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.-8-20C>A MANE Select ENSP00000347507.3:n.-8-20C>A
ENST00000355349.3:c.-8-20C>A ENSP00000347507.3:n.-8-20C>A
NM_000257.3:c.-8-20C>A NP_000248.2:n.-8-20C>A
XR_245686.3:n.99-20C>A
XM_017021340.1:c.-8-20C>A XP_016876829.1:n.-8-20C>A
NM_000257.4:c.-8-20C>A MANE Select NP_000248.2:n.-8-20C>A
Search 100 bp 5'
Search 100 bp 3'