Canonical Allele Identifier: CA346671002
Gene: ABCG8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877683G>C , CM000664.2:g.43877683G>C GRCh38
NC_000002.11:g.44104822G>C , CM000664.1:g.44104822G>C GRCh37
NC_000002.10:g.43958326G>C NCBI36
NG_008884.1:g.43720G>C
NG_008884.2:g.50742G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1879G>C MANE Select ENSP00000272286.2:p.Asp627His
ENST00000272286.2:c.1879G>C ENSP00000272286.2:p.Asp627His
NM_022437.2:c.1879G>C NP_071882.1:p.Asp627His
XM_005264483.2:c.1876G>C XP_005264540.1:p.Asp626His
XM_011533029.1:c.1891G>C XP_011531331.1:p.Asp631His
XM_011533030.1:c.1888G>C XP_011531332.1:p.Asp630His
XM_011533031.1:c.1663G>C XP_011531333.1:p.Asp555His
XR_939707.1:n.2381G>C
NM_001357321.1:c.1876G>C NP_001344250.1:p.Asp626His
XM_011533029.2:c.1891G>C XP_011531331.1:p.Asp631His
XM_011533030.2:c.1888G>C XP_011531332.1:p.Asp630His
XR_001738891.1:n.2395G>C
XR_939707.2:n.2395G>C
NM_022437.3:c.1879G>C MANE Select NP_071882.1:p.Asp627His
NM_001357321.2:c.1876G>C NP_001344250.1:p.Asp626His