Canonical Allele Identifier: CA2493965114
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1670011099

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877751G>T , CM000664.2:g.43877751G>T GRCh38
NC_000002.11:g.44104890G>T , CM000664.1:g.44104890G>T GRCh37
NC_000002.10:g.43958394G>T NCBI36
NG_008884.1:g.43788G>T
NG_008884.2:g.50810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1885-25G>T MANE Select ENSP00000272286.2:n.1885-25G>T
ENST00000272286.2:c.1885-25G>T ENSP00000272286.2:n.1885-25G>T
NM_022437.2:c.1885-25G>T NP_071882.1:n.1885-25G>T
XM_005264483.2:c.1882-25G>T XP_005264540.1:n.1882-25G>T
XM_011533029.1:c.1897-25G>T XP_011531331.1:n.1897-25G>T
XM_011533030.1:c.1894-25G>T XP_011531332.1:n.1894-25G>T
XM_011533031.1:c.1669-25G>T XP_011531333.1:n.1669-25G>T
XR_939707.1:n.2387-25G>T
NM_001357321.1:c.1882-25G>T NP_001344250.1:n.1882-25G>T
XM_011533029.2:c.1897-25G>T XP_011531331.1:n.1897-25G>T
XM_011533030.2:c.1894-25G>T XP_011531332.1:n.1894-25G>T
XR_001738891.1:n.2401-25G>T
XR_939707.2:n.2401-25G>T
NM_022437.3:c.1885-25G>T MANE Select NP_071882.1:n.1885-25G>T
NM_001357321.2:c.1882-25G>T NP_001344250.1:n.1882-25G>T