Canonical Allele Identifier: CA646870930

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846676-C-T
• COSMIC: COSN4992282 ; COSN4992283

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846676C>T , CM000664.2:g.43846676C>T	GRCh38
NC_000002.11:g.44073815C>T , CM000664.1:g.44073815C>T	GRCh37
NC_000002.10:g.43927319C>T	NCBI36
NG_008884.1:g.12713C>T
NG_008884.2:g.19735C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+365C>T MANE Select	ENSP00000272286.2:n.322+365C>T
ENST00000643284.1:n.1144C>T
ENST00000644611.1:c.334+365C>T	ENSP00000495423.1:n.334+365C>T
ENST00000272286.2:c.322+365C>T	ENSP00000272286.2:n.322+365C>T
NM_022437.2:c.322+365C>T	NP_071882.1:n.322+365C>T
XM_005264483.2:c.322+365C>T	XP_005264540.1:n.322+365C>T
XM_011533029.1:c.334+365C>T	XP_011531331.1:n.334+365C>T
XM_011533030.1:c.334+365C>T	XP_011531332.1:n.334+365C>T
XM_011533031.1:c.106+365C>T	XP_011531333.1:n.106+365C>T
XR_939707.1:n.824+365C>T
NM_001357321.1:c.322+365C>T	NP_001344250.1:n.322+365C>T
XM_011533029.2:c.334+365C>T	XP_011531331.1:n.334+365C>T
XM_011533030.2:c.334+365C>T	XP_011531332.1:n.334+365C>T
XR_001738891.1:n.838+365C>T
XR_939707.2:n.838+365C>T
NM_022437.3:c.322+365C>T MANE Select	NP_071882.1:n.322+365C>T
NM_001357321.2:c.322+365C>T	NP_001344250.1:n.322+365C>T