Canonical Allele Identifier: CA346670198

Gene: ABCG8

Linked Data

• dbSNP Id: rs918635103
• gnomAD v3: 2-43875147-T-C
• gnomAD v4: 2-43875147-T-C
• MyVariant Identifiers: chr2:g.44102286T>C (hg19) ; chr2:g.43875147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875147T>C , CM000664.2:g.43875147T>C	GRCh38
NC_000002.11:g.44102286T>C , CM000664.1:g.44102286T>C	GRCh37
NC_000002.10:g.43955790T>C	NCBI36
NG_008884.1:g.41184T>C
NG_008884.2:g.48206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1490T>C MANE Select	ENSP00000272286.2:p.Ile497Thr
ENST00000272286.2:c.1490T>C	ENSP00000272286.2:p.Ile497Thr
NM_022437.2:c.1490T>C	NP_071882.1:p.Ile497Thr
XM_005264483.2:c.1487T>C	XP_005264540.1:p.Ile496Thr
XM_011533029.1:c.1502T>C	XP_011531331.1:p.Ile501Thr
XM_011533030.1:c.1499T>C	XP_011531332.1:p.Ile500Thr
XM_011533031.1:c.1274T>C	XP_011531333.1:p.Ile425Thr
XR_939707.1:n.1992T>C
NM_001357321.1:c.1487T>C	NP_001344250.1:p.Ile496Thr
XM_011533029.2:c.1502T>C	XP_011531331.1:p.Ile501Thr
XM_011533030.2:c.1499T>C	XP_011531332.1:p.Ile500Thr
XR_001738891.1:n.2006T>C
XR_939707.2:n.2006T>C
NM_022437.3:c.1490T>C MANE Select	NP_071882.1:p.Ile497Thr
NM_001357321.2:c.1487T>C	NP_001344250.1:p.Ile496Thr