Canonical Allele Identifier: CA046693
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 921702
ClinVar RCV Id: RCV001181258 RCV003748321
dbSNP Id: rs369490861
ExAC: 14:23901069 G / A
gnomAD v2: 14-23901069-G-A
gnomAD v4: 14-23431860-G-A
MyVariant Identifiers: chr14:g.23901069G>A (hg19) chr14:g.23431860G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431860G>A , CM000676.2:g.23431860G>A GRCh38
NC_000014.8:g.23901069G>A , CM000676.1:g.23901069G>A GRCh37
NC_000014.7:g.22970909G>A NCBI36
NG_007884.1:g.8802C>T , LRG_384:g.8802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.540C>T MANE Select ENSP00000347507.3:p.Ser180=
ENST00000355349.3:c.540C>T ENSP00000347507.3:p.Ser180=
NM_000257.3:c.540C>T NP_000248.2:p.Ser180=
XR_245686.3:n.646C>T
XM_017021340.1:c.540C>T XP_016876829.1:p.Ser180=
NM_000257.4:c.540C>T MANE Select NP_000248.2:p.Ser180=
Search 100 bp 5'
Search 100 bp 3'