Canonical Allele Identifier: CA4147106

Gene: ACTB

Linked Data

• dbSNP Id: rs751558283
• ExAC: 7:5568810 G / A
• gnomAD v2: 7-5568810-G-A
• gnomAD v3: 7-5529179-G-A
• gnomAD v4: 7-5529179-G-A
• MyVariant Identifiers: chr7:g.5568810G>A (hg19) ; chr7:g.5529179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529179G>A , CM000669.2:g.5529179G>A	GRCh38
NC_000007.13:g.5568810G>A , CM000669.1:g.5568810G>A	GRCh37
NC_000007.12:g.5535336G>A	NCBI36
NG_007992.1:g.6423C>T , LRG_132:g.6423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.345C>T	ENSP00000407473.2:p.Asn115=
ENST00000473257.3:c.216C>T	ENSP00000501773.1:p.Asn72=
ENST00000477812.2:n.552C>T
ENST00000484841.6:n.499C>T
ENST00000493945.6:c.345C>T	ENSP00000494269.1:p.Asn115=
ENST00000642480.2:c.345C>T	ENSP00000495995.2:p.Asn115=
ENST00000645025.1:n.428C>T
ENST00000645576.1:c.345C>T	ENSP00000496101.1:p.Asn115=
ENST00000646664.1:c.345C>T MANE Select	ENSP00000494750.1:p.Asn115=
ENST00000647275.1:c.-3-460C>T	ENSP00000494185.1:n.-3-460C>T
ENST00000674681.1:c.345C>T	ENSP00000502821.1:p.Asn115=
ENST00000675515.1:c.345C>T	ENSP00000501862.1:p.Asn115=
ENST00000676189.1:c.345C>T	ENSP00000502538.1:p.Asn115=
ENST00000676319.1:c.87+392C>T	ENSP00000502193.1:n.87+392C>T
ENST00000676397.1:c.345C>T	ENSP00000502286.1:p.Asn115=
ENST00000331789.9:c.345C>T	ENSP00000349960.4:p.Asn115=
ENST00000425660.5:c.345C>T	ENSP00000409264.1:p.Asn115=
ENST00000432588.5:c.345C>T	ENSP00000407473.1:p.Asn115=
ENST00000462494.5:n.429C>T
ENST00000473257.1:n.82-460C>T
ENST00000477812.1:n.552C>T
ENST00000480301.1:n.545C>T
ENST00000484841.5:n.500C>T
ENST00000493945.5:n.351C>T
NM_001101.3:c.345C>T , LRG_132t1:c.345C>T	NP_001092.1:p.Asn115=
XM_006715764.1:c.-362C>T	XP_006715827.1:n.-362C>T
NM_001101.4:c.345C>T	NP_001092.1:p.Asn115=
NM_001101.5:c.345C>T MANE Select	NP_001092.1:p.Asn115=