Canonical Allele Identifier: CA048763
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs552415639
ExAC: 14:23900821 G / T
gnomAD v2: 14-23900821-G-T
gnomAD v4: 14-23431612-G-T
COSMIC: COSM338988
MyVariant Identifiers: chr14:g.23900821G>T (hg19) chr14:g.23431612G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431612G>T , CM000676.2:g.23431612G>T GRCh38
NC_000014.8:g.23900821G>T , CM000676.1:g.23900821G>T GRCh37
NC_000014.7:g.22970661G>T NCBI36
NG_007884.1:g.9050C>A , LRG_384:g.9050C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.705C>A MANE Select ENSP00000347507.3:p.Thr235=
ENST00000355349.3:c.705C>A ENSP00000347507.3:p.Thr235=
NM_000257.3:c.705C>A NP_000248.2:p.Thr235=
XR_245686.3:n.811C>A
XM_017021340.1:c.705C>A XP_016876829.1:p.Thr235=
NM_000257.4:c.705C>A MANE Select NP_000248.2:p.Thr235=
Search 100 bp 5'
Search 100 bp 3'