Canonical Allele Identifier: CA485621747
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1272236852
gnomAD v2: 14-23891397-C-A
gnomAD v4: 14-23422188-C-A
MyVariant Identifiers: chr14:g.23891397C>A (hg19) chr14:g.23422188C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422188C>A , CM000676.2:g.23422188C>A GRCh38
NC_000014.8:g.23891397C>A , CM000676.1:g.23891397C>A GRCh37
NC_000014.7:g.22961237C>A NCBI36
NG_007884.1:g.18474G>T , LRG_384:g.18474G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3237G>T MANE Select ENSP00000347507.3:p.Arg1079=
ENST00000355349.3:c.3237G>T ENSP00000347507.3:p.Arg1079=
NM_000257.3:c.3237G>T NP_000248.2:p.Arg1079=
XR_245686.3:n.3343G>T
XM_017021340.1:c.3237G>T XP_016876829.1:p.Arg1079=
NM_000257.4:c.3237G>T MANE Select NP_000248.2:p.Arg1079=
Search 100 bp 5'
Search 100 bp 3'