Canonical Allele Identifier: CA2493964848
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877289G= , CM000664.2:g.43877289G= GRCh38
NC_000002.11:g.44104428G= , CM000664.1:g.44104428G= GRCh37
NC_000002.10:g.43957932G= NCBI36
NG_008884.1:g.43326G=
NG_008884.2:g.50348G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1757-272G= MANE Select ENSP00000272286.2:n.1757-272G=
ENST00000272286.2:c.1757-272G= ENSP00000272286.2:n.1757-272G=
NM_022437.2:c.1757-272G= NP_071882.1:n.1757-272G=
XM_005264483.2:c.1754-272G= XP_005264540.1:n.1754-272G=
XM_011533029.1:c.1769-272G= XP_011531331.1:n.1769-272G=
XM_011533030.1:c.1766-272G= XP_011531332.1:n.1766-272G=
XM_011533031.1:c.1541-272G= XP_011531333.1:n.1541-272G=
XR_939707.1:n.2259-272G=
NM_001357321.1:c.1754-272G= NP_001344250.1:n.1754-272G=
XM_011533029.2:c.1769-272G= XP_011531331.1:n.1769-272G=
XM_011533030.2:c.1766-272G= XP_011531332.1:n.1766-272G=
XR_001738891.1:n.2273-272G=
XR_939707.2:n.2273-272G=
NM_022437.3:c.1757-272G= MANE Select NP_071882.1:n.1757-272G=
NM_001357321.2:c.1754-272G= NP_001344250.1:n.1754-272G=