Canonical Allele Identifier: CA2493964915
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877422A= , CM000664.2:g.43877422A= GRCh38
NC_000002.11:g.44104561A= , CM000664.1:g.44104561A= GRCh37
NC_000002.10:g.43958065A= NCBI36
NG_008884.1:g.43459A=
NG_008884.2:g.50481A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1757-139A= MANE Select ENSP00000272286.2:n.1757-139A=
ENST00000272286.2:c.1757-139A= ENSP00000272286.2:n.1757-139A=
NM_022437.2:c.1757-139A= NP_071882.1:n.1757-139A=
XM_005264483.2:c.1754-139A= XP_005264540.1:n.1754-139A=
XM_011533029.1:c.1769-139A= XP_011531331.1:n.1769-139A=
XM_011533030.1:c.1766-139A= XP_011531332.1:n.1766-139A=
XM_011533031.1:c.1541-139A= XP_011531333.1:n.1541-139A=
XR_939707.1:n.2259-139A=
NM_001357321.1:c.1754-139A= NP_001344250.1:n.1754-139A=
XM_011533029.2:c.1769-139A= XP_011531331.1:n.1769-139A=
XM_011533030.2:c.1766-139A= XP_011531332.1:n.1766-139A=
XR_001738891.1:n.2273-139A=
XR_939707.2:n.2273-139A=
NM_022437.3:c.1757-139A= MANE Select NP_071882.1:n.1757-139A=
NM_001357321.2:c.1754-139A= NP_001344250.1:n.1754-139A=