Canonical Allele Identifier: CA46435833

Gene: ABCG8

Linked Data

• dbSNP Id: rs114633200
• gnomAD v2: 2-44074464-T-A
• gnomAD v3: 2-43847325-T-A
• gnomAD v4: 2-43847325-T-A
• MyVariant Identifiers: chr2:g.44074464T>A (hg19) ; chr2:g.43847325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43847325T>A , CM000664.2:g.43847325T>A	GRCh38
NC_000002.11:g.44074464T>A , CM000664.1:g.44074464T>A	GRCh37
NC_000002.10:g.43927968T>A	NCBI36
NG_008884.1:g.13362T>A
NG_008884.2:g.20384T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+1014T>A MANE Select	ENSP00000272286.2:n.322+1014T>A
ENST00000643284.1:n.1793T>A
ENST00000644611.1:c.334+1014T>A	ENSP00000495423.1:n.334+1014T>A
ENST00000272286.2:c.322+1014T>A	ENSP00000272286.2:n.322+1014T>A
NM_022437.2:c.322+1014T>A	NP_071882.1:n.322+1014T>A
XM_005264483.2:c.322+1014T>A	XP_005264540.1:n.322+1014T>A
XM_011533029.1:c.334+1014T>A	XP_011531331.1:n.334+1014T>A
XM_011533030.1:c.334+1014T>A	XP_011531332.1:n.334+1014T>A
XM_011533031.1:c.106+1014T>A	XP_011531333.1:n.106+1014T>A
XR_939707.1:n.824+1014T>A
NM_001357321.1:c.322+1014T>A	NP_001344250.1:n.322+1014T>A
XM_011533029.2:c.334+1014T>A	XP_011531331.1:n.334+1014T>A
XM_011533030.2:c.334+1014T>A	XP_011531332.1:n.334+1014T>A
XR_001738891.1:n.838+1014T>A
XR_939707.2:n.838+1014T>A
NM_022437.3:c.322+1014T>A MANE Select	NP_071882.1:n.322+1014T>A
NM_001357321.2:c.322+1014T>A	NP_001344250.1:n.322+1014T>A