Canonical Allele Identifier: CA2123457109
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs113740659
gnomAD v4: 14-23425208-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425208T>A , CM000676.2:g.23425208T>A GRCh38
NC_000014.8:g.23894417T>A , CM000676.1:g.23894417T>A GRCh37
NC_000014.7:g.22964257T>A NCBI36
NG_007884.1:g.15454A>T , LRG_384:g.15454A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2423+74A>T MANE Select ENSP00000347507.3:n.2423+74A>T
ENST00000355349.3:c.2423+74A>T ENSP00000347507.3:n.2423+74A>T
NM_000257.3:c.2423+74A>T NP_000248.2:n.2423+74A>T
XR_245686.3:n.2529+74A>T
XM_017021340.1:c.2423+74A>T XP_016876829.1:n.2423+74A>T
NM_000257.4:c.2423+74A>T MANE Select NP_000248.2:n.2423+74A>T
Search 100 bp 5'
Search 100 bp 3'