Canonical Allele Identifier: CA1637529

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1773846
• ClinVar RCV Id: RCV002389763
• dbSNP Id: rs748256968
• ExAC: 2:44102290 C / T
• gnomAD v2: 2-44102290-C-T
• gnomAD v3: 2-43875151-C-T
• gnomAD v4: 2-43875151-C-T
• MyVariant Identifiers: chr2:g.44102290C>T (hg19) ; chr2:g.43875151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875151C>T , CM000664.2:g.43875151C>T	GRCh38
NC_000002.11:g.44102290C>T , CM000664.1:g.44102290C>T	GRCh37
NC_000002.10:g.43955794C>T	NCBI36
NG_008884.1:g.41188C>T
NG_008884.2:g.48210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1494C>T MANE Select	ENSP00000272286.2:p.Leu498=
ENST00000272286.2:c.1494C>T	ENSP00000272286.2:p.Leu498=
NM_022437.2:c.1494C>T	NP_071882.1:p.Leu498=
XM_005264483.2:c.1491C>T	XP_005264540.1:p.Leu497=
XM_011533029.1:c.1506C>T	XP_011531331.1:p.Leu502=
XM_011533030.1:c.1503C>T	XP_011531332.1:p.Leu501=
XM_011533031.1:c.1278C>T	XP_011531333.1:p.Leu426=
XR_939707.1:n.1996C>T
NM_001357321.1:c.1491C>T	NP_001344250.1:p.Leu497=
XM_011533029.2:c.1506C>T	XP_011531331.1:p.Leu502=
XM_011533030.2:c.1503C>T	XP_011531332.1:p.Leu501=
XR_001738891.1:n.2010C>T
XR_939707.2:n.2010C>T
NM_022437.3:c.1494C>T MANE Select	NP_071882.1:p.Leu498=
NM_001357321.2:c.1491C>T	NP_001344250.1:p.Leu497=