Canonical Allele Identifier: CA389052261
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 835570
ClinVar RCV Id: RCV001036483
dbSNP Id: rs1892945595
gnomAD v4: 14-23431632-C-T
COSMIC: COSM4959150
MyVariant Identifiers: chr14:g.23900841C>T (hg19) chr14:g.23431632C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431632C>T , CM000676.2:g.23431632C>T GRCh38
NC_000014.8:g.23900841C>T , CM000676.1:g.23900841C>T GRCh37
NC_000014.7:g.22970681C>T NCBI36
NG_007884.1:g.9030G>A , LRG_384:g.9030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.685G>A MANE Select ENSP00000347507.3:p.Ala229Thr
ENST00000355349.3:c.685G>A ENSP00000347507.3:p.Ala229Thr
NM_000257.3:c.685G>A NP_000248.2:p.Ala229Thr
XR_245686.3:n.791G>A
XM_017021340.1:c.685G>A XP_016876829.1:p.Ala229Thr
NM_000257.4:c.685G>A MANE Select NP_000248.2:p.Ala229Thr
Search 100 bp 5'
Search 100 bp 3'