Canonical Allele Identifier: CA612937500
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2158310
ClinVar RCV Id: RCV003079795
dbSNP Id: rs1387381971

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424168G>A , CM000676.2:g.23424168G>A GRCh38
NC_000014.8:g.23893377G>A , CM000676.1:g.23893377G>A GRCh37
NC_000014.7:g.22963217G>A NCBI36
NG_007884.1:g.16494C>T , LRG_384:g.16494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2680-19C>T MANE Select ENSP00000347507.3:n.2680-19C>T
ENST00000355349.3:c.2680-19C>T ENSP00000347507.3:n.2680-19C>T
NM_000257.3:c.2680-19C>T NP_000248.2:n.2680-19C>T
XR_245686.3:n.2786-19C>T
XM_017021340.1:c.2680-19C>T XP_016876829.1:n.2680-19C>T
NM_000257.4:c.2680-19C>T MANE Select NP_000248.2:n.2680-19C>T