Canonical Allele Identifier: CA389047388
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 843860
ClinVar RCV Id: RCV001046568
dbSNP Id: rs1892600025

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424145T>A , CM000676.2:g.23424145T>A GRCh38
NC_000014.8:g.23893354T>A , CM000676.1:g.23893354T>A GRCh37
NC_000014.7:g.22963194T>A NCBI36
NG_007884.1:g.16517A>T , LRG_384:g.16517A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2684A>T MANE Select ENSP00000347507.3:p.Gln895Leu
ENST00000355349.3:c.2684A>T ENSP00000347507.3:p.Gln895Leu
NM_000257.3:c.2684A>T NP_000248.2:p.Gln895Leu
XR_245686.3:n.2790A>T
XM_017021340.1:c.2684A>T XP_016876829.1:p.Gln895Leu
NM_000257.4:c.2684A>T MANE Select NP_000248.2:p.Gln895Leu