Canonical Allele Identifier: CA048169
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 508736
ClinVar RCV Id: RCV000599641 RCV001181629 RCV000629041 RCV002358684
dbSNP Id: rs539290591
ExAC: 14:23882997 G / T
gnomAD v2: 14-23882997-G-T
gnomAD v3: 14-23413788-G-T
gnomAD v4: 14-23413788-G-T
MyVariant Identifiers: chr14:g.23882997G>T (hg19) chr14:g.23413788G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413788G>T , CM000676.2:g.23413788G>T GRCh38
NC_000014.8:g.23882997G>T , CM000676.1:g.23882997G>T GRCh37
NC_000014.7:g.22952837G>T NCBI36
NG_007884.1:g.26874C>A , LRG_384:g.26874C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5761C>A MANE Select ENSP00000347507.3:p.Arg1921=
ENST00000355349.3:c.5761C>A ENSP00000347507.3:p.Arg1921=
NM_000257.3:c.5761C>A NP_000248.2:p.Arg1921=
XM_017021340.1:c.5761C>A XP_016876829.1:p.Arg1921=
NM_000257.4:c.5761C>A MANE Select NP_000248.2:p.Arg1921=
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Search 100 bp 3'