Canonical Allele Identifier: CA4147050

Gene: ACTB

Linked Data

• dbSNP Id: rs761089427
• ExAC: 7:5568679 G / A
• gnomAD v2: 7-5568679-G-A
• gnomAD v3: 7-5529048-G-A
• gnomAD v4: 7-5529048-G-A
• MyVariant Identifiers: chr7:g.5568679G>A (hg19) ; chr7:g.5529048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529048G>A , CM000669.2:g.5529048G>A	GRCh38
NC_000007.13:g.5568679G>A , CM000669.1:g.5568679G>A	GRCh37
NC_000007.12:g.5535205G>A	NCBI36
NG_007992.1:g.6554C>T , LRG_132:g.6554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.363+113C>T	ENSP00000407473.2:n.363+113C>T
ENST00000473257.3:c.234+113C>T	ENSP00000501773.1:n.234+113C>T
ENST00000477812.2:n.582C>T
ENST00000484841.6:n.529C>T
ENST00000493945.6:c.363+113C>T	ENSP00000494269.1:n.363+113C>T
ENST00000642480.2:c.363+113C>T	ENSP00000495995.2:n.363+113C>T
ENST00000645025.1:n.458C>T
ENST00000645576.1:c.363+113C>T	ENSP00000496101.1:n.363+113C>T
ENST00000646664.1:c.363+113C>T MANE Select	ENSP00000494750.1:n.363+113C>T
ENST00000647275.1:c.-3-329C>T	ENSP00000494185.1:n.-3-329C>T
ENST00000674681.1:c.363+113C>T	ENSP00000502821.1:n.363+113C>T
ENST00000675515.1:c.363+113C>T	ENSP00000501862.1:n.363+113C>T
ENST00000676189.1:c.374+102C>T	ENSP00000502538.1:n.374+102C>T
ENST00000676319.1:c.87+523C>T	ENSP00000502193.1:n.87+523C>T
ENST00000676397.1:c.363+113C>T	ENSP00000502286.1:n.363+113C>T
ENST00000331789.9:c.363+113C>T	ENSP00000349960.4:n.363+113C>T
ENST00000425660.5:c.375C>T	ENSP00000409264.1:p.Leu125=
ENST00000432588.5:c.363+113C>T	ENSP00000407473.1:n.363+113C>T
ENST00000462494.5:n.560C>T
ENST00000473257.1:n.82-329C>T
ENST00000477812.1:n.570+113C>T
ENST00000484841.5:n.518+113C>T
ENST00000493945.5:n.369+113C>T
NM_001101.3:c.363+113C>T , LRG_132t1:c.363+113C>T	NP_001092.1:n.363+113C>T
XM_006715764.1:c.-332C>T	XP_006715827.1:n.-332C>T
NM_001101.4:c.363+113C>T	NP_001092.1:n.363+113C>T
NM_001101.5:c.363+113C>T MANE Select	NP_001092.1:n.363+113C>T