Canonical Allele Identifier: CA2493963546

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669913332
• gnomAD v4: 2-43875088-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875088T>C , CM000664.2:g.43875088T>C	GRCh38
NC_000002.11:g.44102227T>C , CM000664.1:g.44102227T>C	GRCh37
NC_000002.10:g.43955731T>C	NCBI36
NG_008884.1:g.41125T>C
NG_008884.2:g.48147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-58T>C MANE Select	ENSP00000272286.2:n.1489-58T>C
ENST00000272286.2:c.1489-58T>C	ENSP00000272286.2:n.1489-58T>C
NM_022437.2:c.1489-58T>C	NP_071882.1:n.1489-58T>C
XM_005264483.2:c.1486-58T>C	XP_005264540.1:n.1486-58T>C
XM_011533029.1:c.1501-58T>C	XP_011531331.1:n.1501-58T>C
XM_011533030.1:c.1498-58T>C	XP_011531332.1:n.1498-58T>C
XM_011533031.1:c.1273-58T>C	XP_011531333.1:n.1273-58T>C
XR_939707.1:n.1991-58T>C
NM_001357321.1:c.1486-58T>C	NP_001344250.1:n.1486-58T>C
XM_011533029.2:c.1501-58T>C	XP_011531331.1:n.1501-58T>C
XM_011533030.2:c.1498-58T>C	XP_011531332.1:n.1498-58T>C
XR_001738891.1:n.2005-58T>C
XR_939707.2:n.2005-58T>C
NM_022437.3:c.1489-58T>C MANE Select	NP_071882.1:n.1489-58T>C
NM_001357321.2:c.1486-58T>C	NP_001344250.1:n.1486-58T>C