Canonical Allele Identifier: CA485767350
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 700607
ClinVar RCV Id: RCV000868857 RCV003886447
dbSNP Id: rs1595089480
gnomAD v4: 14-23431639-A-G
MyVariant Identifiers: chr14:g.23900848A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431639A>G , CM000676.2:g.23431639A>G GRCh38
NC_000014.8:g.23900848A>G , CM000676.1:g.23900848A>G GRCh37
NC_000014.7:g.22970688A>G NCBI36
NG_007884.1:g.9023T>C , LRG_384:g.9023T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.678T>C MANE Select ENSP00000347507.3:p.Ala226=
ENST00000355349.3:c.678T>C ENSP00000347507.3:p.Ala226=
NM_000257.3:c.678T>C NP_000248.2:p.Ala226=
XR_245686.3:n.784T>C
XM_017021340.1:c.678T>C XP_016876829.1:p.Ala226=
NM_000257.4:c.678T>C MANE Select NP_000248.2:p.Ala226=
Search 100 bp 5'
Search 100 bp 3'