Canonical Allele Identifier: CA485766618
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1134295
ClinVar RCV Id: RCV001469136
dbSNP Id: rs2138662754
MyVariant Identifiers: chr14:g.23892930C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423721C>T , CM000676.2:g.23423721C>T GRCh38
NC_000014.8:g.23892930C>T , CM000676.1:g.23892930C>T GRCh37
NC_000014.7:g.22962770C>T NCBI36
NG_007884.1:g.16941G>A , LRG_384:g.16941G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2925G>A MANE Select ENSP00000347507.3:p.Val975=
ENST00000355349.3:c.2925G>A ENSP00000347507.3:p.Val975=
NM_000257.3:c.2925G>A NP_000248.2:p.Val975=
XR_245686.3:n.3031G>A
XM_017021340.1:c.2925G>A XP_016876829.1:p.Val975=
NM_000257.4:c.2925G>A MANE Select NP_000248.2:p.Val975=