Canonical Allele Identifier: CA46426883
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs954078225
gnomAD v2: 2-44066218-G-A
gnomAD v3: 2-43839079-G-A
gnomAD v4: 2-43839079-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839079G>A , CM000664.2:g.43839079G>A GRCh38
NC_000002.11:g.44066218G>A , CM000664.1:g.44066218G>A GRCh37
NC_000002.10:g.43919722G>A NCBI36
NG_008883.1:g.4741C>T
NG_008884.1:g.5116G>A
NG_008884.2:g.12138G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.26G>A MANE Select ENSP00000272286.2:p.Arg9Lys
ENST00000643284.1:n.521-5428G>A
ENST00000644611.1:c.76-5428G>A ENSP00000495423.1:n.76-5428G>A
ENST00000272286.2:c.26G>A ENSP00000272286.2:p.Arg9Lys
NM_022437.2:c.26G>A NP_071882.1:p.Arg9Lys
XM_005264483.2:c.26G>A XP_005264540.1:p.Arg9Lys
XM_011533029.1:c.76-5428G>A XP_011531331.1:n.76-5428G>A
XM_011533030.1:c.76-5428G>A XP_011531332.1:n.76-5428G>A
XM_011533031.1:c.-153-5428G>A XP_011531333.1:n.-153-5428G>A
XR_939707.1:n.566-5428G>A
NM_001357321.1:c.26G>A NP_001344250.1:p.Arg9Lys
XM_011533029.2:c.76-5428G>A XP_011531331.1:n.76-5428G>A
XM_011533030.2:c.76-5428G>A XP_011531332.1:n.76-5428G>A
XR_001738891.1:n.580-5428G>A
XR_939707.2:n.580-5428G>A
NM_022437.3:c.26G>A MANE Select NP_071882.1:p.Arg9Lys
NM_001357321.2:c.26G>A NP_001344250.1:p.Arg9Lys