Canonical Allele Identifier: CA389043863
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444875
ClinVar RCV Id: RCV001992460
dbSNP Id: rs2138654363
gnomAD v4: 14-23420126-G-A
MyVariant Identifiers: chr14:g.23889335G>A (hg19) chr14:g.23420126G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420126G>A , CM000676.2:g.23420126G>A GRCh38
NC_000014.8:g.23889335G>A , CM000676.1:g.23889335G>A GRCh37
NC_000014.7:g.22959175G>A NCBI36
NG_007884.1:g.20536C>T , LRG_384:g.20536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3445C>T MANE Select ENSP00000347507.3:p.Arg1149Trp
ENST00000355349.3:c.3445C>T ENSP00000347507.3:p.Arg1149Trp
NM_000257.3:c.3445C>T NP_000248.2:p.Arg1149Trp
XM_017021340.1:c.3445C>T XP_016876829.1:p.Arg1149Trp
NM_000257.4:c.3445C>T MANE Select NP_000248.2:p.Arg1149Trp
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