Canonical Allele Identifier: CA257818865
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018988
ClinVar RCV Id: RCV001318361 RCV003166841 RCV004005093
dbSNP Id: rs141191984
gnomAD v3: 14-23423913-C-G
gnomAD v4: 14-23423913-C-G
MyVariant Identifiers: chr14:g.23893122C>G (hg19) chr14:g.23423913C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423913C>G , CM000676.2:g.23423913C>G GRCh38
NC_000014.8:g.23893122C>G , CM000676.1:g.23893122C>G GRCh37
NC_000014.7:g.22962962C>G NCBI36
NG_007884.1:g.16749G>C , LRG_384:g.16749G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2916G>C MANE Select ENSP00000347507.3:p.Glu972Asp
ENST00000355349.3:c.2916G>C ENSP00000347507.3:p.Glu972Asp
NM_000257.3:c.2916G>C NP_000248.2:p.Glu972Asp
XR_245686.3:n.3022G>C
XM_017021340.1:c.2916G>C XP_016876829.1:p.Glu972Asp
NM_000257.4:c.2916G>C MANE Select NP_000248.2:p.Glu972Asp
Search 100 bp 5'
Search 100 bp 3'