Canonical Allele Identifier: CA2493965115
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877754C= , CM000664.2:g.43877754C= GRCh38
NC_000002.11:g.44104893C= , CM000664.1:g.44104893C= GRCh37
NC_000002.10:g.43958397C= NCBI36
NG_008884.1:g.43791C=
NG_008884.2:g.50813C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1885-22C= MANE Select ENSP00000272286.2:n.1885-22C=
ENST00000272286.2:c.1885-22C= ENSP00000272286.2:n.1885-22C=
NM_022437.2:c.1885-22C= NP_071882.1:n.1885-22C=
XM_005264483.2:c.1882-22C= XP_005264540.1:n.1882-22C=
XM_011533029.1:c.1897-22C= XP_011531331.1:n.1897-22C=
XM_011533030.1:c.1894-22C= XP_011531332.1:n.1894-22C=
XM_011533031.1:c.1669-22C= XP_011531333.1:n.1669-22C=
XR_939707.1:n.2387-22C=
NM_001357321.1:c.1882-22C= NP_001344250.1:n.1882-22C=
XM_011533029.2:c.1897-22C= XP_011531331.1:n.1897-22C=
XM_011533030.2:c.1894-22C= XP_011531332.1:n.1894-22C=
XR_001738891.1:n.2401-22C=
XR_939707.2:n.2401-22C=
NM_022437.3:c.1885-22C= MANE Select NP_071882.1:n.1885-22C=
NM_001357321.2:c.1882-22C= NP_001344250.1:n.1882-22C=