Canonical Allele Identifier: CA485626214
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331998
ClinVar RCV Id: RCV001804514
dbSNP Id: rs2138680193
gnomAD v4: 14-23430977-A-G
MyVariant Identifiers: chr14:g.23900186A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430977A>G , CM000676.2:g.23430977A>G GRCh38
NC_000014.8:g.23900186A>G , CM000676.1:g.23900186A>G GRCh37
NC_000014.7:g.22970026A>G NCBI36
NG_007884.1:g.9685T>C , LRG_384:g.9685T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.819T>C MANE Select ENSP00000347507.3:p.Val273=
ENST00000355349.3:c.819T>C ENSP00000347507.3:p.Val273=
NM_000257.3:c.819T>C NP_000248.2:p.Val273=
XR_245686.3:n.925T>C
XM_017021340.1:c.819T>C XP_016876829.1:p.Val273=
NM_000257.4:c.819T>C MANE Select NP_000248.2:p.Val273=
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