Canonical Allele Identifier: CA2493965268

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670021612
• gnomAD v4: 2-43878029-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878029C>T , CM000664.2:g.43878029C>T	GRCh38
NC_000002.11:g.44105168C>T , CM000664.1:g.44105168C>T	GRCh37
NC_000002.10:g.43958672C>T	NCBI36
NG_008884.1:g.44066C>T
NG_008884.2:g.51088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*116C>T MANE Select	ENSP00000272286.2:n.*116C>T
ENST00000272286.2:c.*116C>T	ENSP00000272286.2:n.*116C>T
NM_022437.2:c.*116C>T	NP_071882.1:n.*116C>T
XM_005264483.2:c.*116C>T	XP_005264540.1:n.*116C>T
XM_011533029.1:c.*116C>T	XP_011531331.1:n.*116C>T
XM_011533030.1:c.*116C>T	XP_011531332.1:n.*116C>T
XM_011533031.1:c.*116C>T	XP_011531333.1:n.*116C>T
XR_939707.1:n.2640C>T
NM_001357321.1:c.*116C>T	NP_001344250.1:n.*116C>T
XM_011533029.2:c.*116C>T	XP_011531331.1:n.*116C>T
XM_011533030.2:c.*116C>T	XP_011531332.1:n.*116C>T
XR_001738891.1:n.2654C>T
XR_939707.2:n.2654C>T
NM_022437.3:c.*116C>T MANE Select	NP_071882.1:n.*116C>T
NM_001357321.2:c.*116C>T	NP_001344250.1:n.*116C>T