Canonical Allele Identifier: CA346670484
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1418885926
gnomAD v2: 2-44102427-T-C
gnomAD v4: 2-43875288-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875288T>C , CM000664.2:g.43875288T>C GRCh38
NC_000002.11:g.44102427T>C , CM000664.1:g.44102427T>C GRCh37
NC_000002.10:g.43955931T>C NCBI36
NG_008884.1:g.41325T>C
NG_008884.2:g.48347T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.1631T>C MANE Select ENSP00000272286.2:p.Ile544Thr
ENST00000272286.2:c.1631T>C ENSP00000272286.2:p.Ile544Thr
NM_022437.2:c.1631T>C NP_071882.1:p.Ile544Thr
XM_005264483.2:c.1628T>C XP_005264540.1:p.Ile543Thr
XM_011533029.1:c.1643T>C XP_011531331.1:p.Ile548Thr
XM_011533030.1:c.1640T>C XP_011531332.1:p.Ile547Thr
XM_011533031.1:c.1415T>C XP_011531333.1:p.Ile472Thr
XR_939707.1:n.2133T>C
NM_001357321.1:c.1628T>C NP_001344250.1:p.Ile543Thr
XM_011533029.2:c.1643T>C XP_011531331.1:p.Ile548Thr
XM_011533030.2:c.1640T>C XP_011531332.1:p.Ile547Thr
XR_001738891.1:n.2147T>C
XR_939707.2:n.2147T>C
NM_022437.3:c.1631T>C MANE Select NP_071882.1:p.Ile544Thr
NM_001357321.2:c.1628T>C NP_001344250.1:p.Ile543Thr