Canonical Allele Identifier: CA048935
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762246
ClinVar RCV Id: RCV003587905
dbSNP Id: rs538614117
ExAC: 14:23900707 G / A
gnomAD v2: 14-23900707-G-A
gnomAD v4: 14-23431498-G-A
MyVariant Identifiers: chr14:g.23900707G>A (hg19) chr14:g.23431498G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431498G>A , CM000676.2:g.23431498G>A GRCh38
NC_000014.8:g.23900707G>A , CM000676.1:g.23900707G>A GRCh37
NC_000014.7:g.22970547G>A NCBI36
NG_007884.1:g.9164C>T , LRG_384:g.9164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.733-17C>T MANE Select ENSP00000347507.3:n.733-17C>T
ENST00000355349.3:c.733-17C>T ENSP00000347507.3:n.733-17C>T
NM_000257.3:c.733-17C>T NP_000248.2:n.733-17C>T
XR_245686.3:n.839-17C>T
XM_017021340.1:c.733-17C>T XP_016876829.1:n.733-17C>T
NM_000257.4:c.733-17C>T MANE Select NP_000248.2:n.733-17C>T
Search 100 bp 5'
Search 100 bp 3'