Canonical Allele Identifier: CA4387141
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs771906747
ExAC: 7:100244858 G / T
gnomAD v2: 7-100244858-G-T
gnomAD v4: 7-100647235-G-T
MyVariant Identifiers: chr7:g.100244858G>T (hg19) chr7:g.100647235G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647235G>T , CM000669.2:g.100647235G>T GRCh38
NC_000007.13:g.100244858G>T , CM000669.1:g.100244858G>T GRCh37
NC_000007.12:g.100082794G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.809C>A MANE Select ENSP00000160382.5:p.Pro270His
ENST00000160382.9:c.809C>A ENSP00000160382.5:p.Pro270His
ENST00000487125.1:n.345C>A
NM_016188.4:c.809C>A NP_057272.1:p.Pro270His
XR_927476.1:n.916C>A
NR_134539.1:n.916C>A
NM_016188.5:c.809C>A MANE Select NP_057272.1:p.Pro270His
NR_134539.2:n.903C>A
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