Canonical Allele Identifier: CA048592
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1296546
ClinVar RCV Id: RCV001720866
dbSNP Id: rs543323997
ExAC: 14:23900938 C / T
gnomAD v2: 14-23900938-C-T
gnomAD v3: 14-23431729-C-T
gnomAD v4: 14-23431729-C-T
MyVariant Identifiers: chr14:g.23900938C>T (hg19) chr14:g.23431729C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431729C>T , CM000676.2:g.23431729C>T GRCh38
NC_000014.8:g.23900938C>T , CM000676.1:g.23900938C>T GRCh37
NC_000014.7:g.22970778C>T NCBI36
NG_007884.1:g.8933G>A , LRG_384:g.8933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.639+32G>A MANE Select ENSP00000347507.3:n.639+32G>A
ENST00000355349.3:c.639+32G>A ENSP00000347507.3:n.639+32G>A
NM_000257.3:c.639+32G>A NP_000248.2:n.639+32G>A
XR_245686.3:n.745+32G>A
XM_017021340.1:c.639+32G>A XP_016876829.1:n.639+32G>A
NM_000257.4:c.639+32G>A MANE Select NP_000248.2:n.639+32G>A
Search 100 bp 5'
Search 100 bp 3'