Canonical Allele Identifier: CA2493945230
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846432G= , CM000664.2:g.43846432G= GRCh38
NC_000002.11:g.44073571G= , CM000664.1:g.44073571G= GRCh37
NC_000002.10:g.43927075G= NCBI36
NG_008884.1:g.12469G=
NG_008884.2:g.19491G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.322+121G= MANE Select ENSP00000272286.2:n.322+121G=
ENST00000643284.1:n.900G=
ENST00000644611.1:c.334+121G= ENSP00000495423.1:n.334+121G=
ENST00000272286.2:c.322+121G= ENSP00000272286.2:n.322+121G=
NM_022437.2:c.322+121G= NP_071882.1:n.322+121G=
XM_005264483.2:c.322+121G= XP_005264540.1:n.322+121G=
XM_011533029.1:c.334+121G= XP_011531331.1:n.334+121G=
XM_011533030.1:c.334+121G= XP_011531332.1:n.334+121G=
XM_011533031.1:c.106+121G= XP_011531333.1:n.106+121G=
XR_939707.1:n.824+121G=
NM_001357321.1:c.322+121G= NP_001344250.1:n.322+121G=
XM_011533029.2:c.334+121G= XP_011531331.1:n.334+121G=
XM_011533030.2:c.334+121G= XP_011531332.1:n.334+121G=
XR_001738891.1:n.838+121G=
XR_939707.2:n.838+121G=
NM_022437.3:c.322+121G= MANE Select NP_071882.1:n.322+121G=
NM_001357321.2:c.322+121G= NP_001344250.1:n.322+121G=