Canonical Allele Identifier: CA389053601
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2088932
ClinVar RCV Id: RCV003018224
gnomAD v4: 14-23433539-T-C
MyVariant Identifiers: chr14:g.23902748T>C (hg19) chr14:g.23433539T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23433539T>C , CM000676.2:g.23433539T>C GRCh38
NC_000014.8:g.23902748T>C , CM000676.1:g.23902748T>C GRCh37
NC_000014.7:g.22972588T>C NCBI36
NG_007884.1:g.7123A>G , LRG_384:g.7123A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.194A>G MANE Select ENSP00000347507.3:p.Tyr65Cys
ENST00000355349.3:c.194A>G ENSP00000347507.3:p.Tyr65Cys
NM_000257.3:c.194A>G NP_000248.2:p.Tyr65Cys
XR_245686.3:n.300A>G
XM_017021340.1:c.194A>G XP_016876829.1:p.Tyr65Cys
NM_000257.4:c.194A>G MANE Select NP_000248.2:p.Tyr65Cys
Search 100 bp 5'
Search 100 bp 3'