Canonical Allele Identifier: CA163293959
Gene: ACTL6B HGNC NCBI

Linked Data

ClinVar Variation Id: 635101
ClinVar RCV Id: RCV000785969 RCV001028087
dbSNP Id: rs955171017
gnomAD v2: 7-100244242-C-T
gnomAD v4: 7-100646619-C-T
MyVariant Identifiers: chr7:g.100244242C>T (hg19) chr7:g.100646619C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646619C>T , CM000669.2:g.100646619C>T GRCh38
NC_000007.13:g.100244242C>T , CM000669.1:g.100244242C>T GRCh37
NC_000007.12:g.100082178C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1045G>A MANE Select ENSP00000160382.5:p.Gly349Ser
ENST00000160382.9:c.1045G>A ENSP00000160382.5:p.Gly349Ser
ENST00000487125.1:n.607G>A
NM_016188.4:c.1045G>A NP_057272.1:p.Gly349Ser
XR_927476.1:n.1152G>A
NR_134539.1:n.1152G>A
NM_016188.5:c.1045G>A MANE Select NP_057272.1:p.Gly349Ser
NR_134539.2:n.1139G>A
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