Canonical Allele Identifier: CA4387073
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs185714057
ExAC: 7:100244335 G / T
gnomAD v2: 7-100244335-G-T
gnomAD v3: 7-100646712-G-T
gnomAD v4: 7-100646712-G-T
MyVariant Identifiers: chr7:g.100244335G>T (hg19) chr7:g.100244335_100244343delinsTGGCCCCTT (hg19) chr7:g.100646712G>T (hg38) chr7:g.100646712_100646720delinsTGGCCCCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646712G>T , CM000669.2:g.100646712G>T GRCh38
NC_000007.13:g.100244335G>T , CM000669.1:g.100244335G>T GRCh37
NC_000007.12:g.100082271G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1017+39C>A MANE Select ENSP00000160382.5:n.1017+39C>A
ENST00000160382.9:c.1017+39C>A ENSP00000160382.5:n.1017+39C>A
ENST00000487125.1:n.579+39C>A
NM_016188.4:c.1017+39C>A NP_057272.1:n.1017+39C>A
XR_927476.1:n.1124+39C>A
NR_134539.1:n.1124+39C>A
NM_016188.5:c.1017+39C>A MANE Select NP_057272.1:n.1017+39C>A
NR_134539.2:n.1111+39C>A
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