Canonical Allele Identifier: CA2493948656
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43852593G= , CM000664.2:g.43852593G= GRCh38
NC_000002.11:g.44079732G= , CM000664.1:g.44079732G= GRCh37
NC_000002.10:g.43933236G= NCBI36
NG_008884.1:g.18630G=
NG_008884.2:g.25652G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272286.4:c.695-6G= MANE Select ENSP00000272286.2:n.695-6G=
ENST00000644611.1:c.707-6G= ENSP00000495423.1:n.707-6G=
ENST00000272286.2:c.695-6G= ENSP00000272286.2:n.695-6G=
NM_022437.2:c.695-6G= NP_071882.1:n.695-6G=
XM_005264483.2:c.695-6G= XP_005264540.1:n.695-6G=
XM_011533029.1:c.707-6G= XP_011531331.1:n.707-6G=
XM_011533030.1:c.707-6G= XP_011531332.1:n.707-6G=
XM_011533031.1:c.479-6G= XP_011531333.1:n.479-6G=
XR_939707.1:n.1197-6G=
NM_001357321.1:c.695-6G= NP_001344250.1:n.695-6G=
XM_011533029.2:c.707-6G= XP_011531331.1:n.707-6G=
XM_011533030.2:c.707-6G= XP_011531332.1:n.707-6G=
XR_001738891.1:n.1211-6G=
XR_939707.2:n.1211-6G=
NM_022437.3:c.695-6G= MANE Select NP_071882.1:n.695-6G=
NM_001357321.2:c.695-6G= NP_001344250.1:n.695-6G=