Canonical Allele Identifier: CA2658828156
Gene: ABCG8 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846441A>T , CM000664.2:g.43846441A>T GRCh38
NC_000002.11:g.44073580A>T , CM000664.1:g.44073580A>T GRCh37
NC_000002.10:g.43927084A>T NCBI36
NG_008884.1:g.12478A>T
NG_008884.2:g.19500A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.322+130A>T MANE Select ENSP00000272286.2:n.322+130A>T
ENST00000643284.1:n.909A>T
ENST00000644611.1:c.334+130A>T ENSP00000495423.1:n.334+130A>T
ENST00000272286.2:c.322+130A>T ENSP00000272286.2:n.322+130A>T
NM_022437.2:c.322+130A>T NP_071882.1:n.322+130A>T
XM_005264483.2:c.322+130A>T XP_005264540.1:n.322+130A>T
XM_011533029.1:c.334+130A>T XP_011531331.1:n.334+130A>T
XM_011533030.1:c.334+130A>T XP_011531332.1:n.334+130A>T
XM_011533031.1:c.106+130A>T XP_011531333.1:n.106+130A>T
XR_939707.1:n.824+130A>T
NM_001357321.1:c.322+130A>T NP_001344250.1:n.322+130A>T
XM_011533029.2:c.334+130A>T XP_011531331.1:n.334+130A>T
XM_011533030.2:c.334+130A>T XP_011531332.1:n.334+130A>T
XR_001738891.1:n.838+130A>T
XR_939707.2:n.838+130A>T
NM_022437.3:c.322+130A>T MANE Select NP_071882.1:n.322+130A>T
NM_001357321.2:c.322+130A>T NP_001344250.1:n.322+130A>T