Canonical Allele Identifier: CA346663540
Gene: ABCG8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846231A>T , CM000664.2:g.43846231A>T GRCh38
NC_000002.11:g.44073370A>T , CM000664.1:g.44073370A>T GRCh37
NC_000002.10:g.43926874A>T NCBI36
NG_008884.1:g.12268A>T
NG_008884.2:g.19290A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.242A>T MANE Select ENSP00000272286.2:p.Gln81Leu
ENST00000643284.1:n.699A>T
ENST00000644611.1:c.254A>T ENSP00000495423.1:p.Gln85Leu
ENST00000272286.2:c.242A>T ENSP00000272286.2:p.Gln81Leu
NM_022437.2:c.242A>T NP_071882.1:p.Gln81Leu
XM_005264483.2:c.242A>T XP_005264540.1:p.Gln81Leu
XM_011533029.1:c.254A>T XP_011531331.1:p.Gln85Leu
XM_011533030.1:c.254A>T XP_011531332.1:p.Gln85Leu
XM_011533031.1:c.26A>T XP_011531333.1:p.Gln9Leu
XR_939707.1:n.744A>T
NM_001357321.1:c.242A>T NP_001344250.1:p.Gln81Leu
XM_011533029.2:c.254A>T XP_011531331.1:p.Gln85Leu
XM_011533030.2:c.254A>T XP_011531332.1:p.Gln85Leu
XR_001738891.1:n.758A>T
XR_939707.2:n.758A>T
NM_022437.3:c.242A>T MANE Select NP_071882.1:p.Gln81Leu
NM_001357321.2:c.242A>T NP_001344250.1:p.Gln81Leu