Canonical Allele Identifier: CA029049
Gene: MYH7 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23427811G>T
GRCh37 chr14:g.23897020G>T
Revel Score:
ENST00000355349 (MANE Select) 0.749
ENST00000544444 0.749
gnomAD v2:
14:23897020 G / T
gnomAD v3:
14:23427811 G / T
gnomAD v4:
chr14-23427811-G-T
Joint Max Group AF 2.8e-7 (NFE)
ClinVar Allele:
642300
ClinVar RCV:
RCV000812315
RCV004001741
ClinVar Variation:
656013
dbSNP:
750828477
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427811G>T , CM000676.2:g.23427811G>T GRCh38
NC_000014.8:g.23897020G>T , CM000676.1:g.23897020G>T GRCh37
NC_000014.7:g.22966860G>T NCBI36
NG_007884.1:g.12851C>A , LRG_384:g.12851C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1662C>A MANE Select ENSP00000347507.3:p.Asp554Glu
ENST00000355349.3:c.1662C>A ENSP00000347507.3:p.Asp554Glu
NM_000257.3:c.1662C>A NP_000248.2:p.Asp554Glu
XR_245686.3:n.1768C>A
XM_017021340.1:c.1662C>A XP_016876829.1:p.Asp554Glu
NM_000257.4:c.1662C>A MANE Select NP_000248.2:p.Asp554Glu
Search 100 bp 5'
Search 100 bp 3'