Canonical Allele Identifier: CA2123445611
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1619147
ClinVar RCV Id: RCV002086511 RCV003533128
dbSNP Id: rs1892817047
gnomAD v4: 14-23429113-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429113T>A , CM000676.2:g.23429113T>A GRCh38
NC_000014.8:g.23898322T>A , CM000676.1:g.23898322T>A GRCh37
NC_000014.7:g.22968162T>A NCBI36
NG_007884.1:g.11549A>T , LRG_384:g.11549A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1258-9A>T MANE Select ENSP00000347507.3:n.1258-9A>T
ENST00000355349.3:c.1258-9A>T ENSP00000347507.3:n.1258-9A>T
NM_000257.3:c.1258-9A>T NP_000248.2:n.1258-9A>T
XR_245686.3:n.1364-9A>T
XM_017021340.1:c.1258-9A>T XP_016876829.1:n.1258-9A>T
NM_000257.4:c.1258-9A>T MANE Select NP_000248.2:n.1258-9A>T
Search 100 bp 5'
Search 100 bp 3'