Canonical Allele Identifier: CA2493941267
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839050C= , CM000664.2:g.43839050C= GRCh38
NC_000002.11:g.44066189C= , CM000664.1:g.44066189C= GRCh37
NC_000002.10:g.43919693C= NCBI36
NG_008883.1:g.4770G=
NG_008884.1:g.5087C=
NG_008884.2:g.12109C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.-4C= MANE Select ENSP00000272286.2:n.-4C=
ENST00000643284.1:n.521-5457C=
ENST00000644611.1:c.76-5457C= ENSP00000495423.1:n.76-5457C=
ENST00000272286.2:c.-4C= ENSP00000272286.2:n.-4C=
NM_022437.2:c.-4C= NP_071882.1:n.-4C=
XM_005264483.2:c.-4C= XP_005264540.1:n.-4C=
XM_011533029.1:c.76-5457C= XP_011531331.1:n.76-5457C=
XM_011533030.1:c.76-5457C= XP_011531332.1:n.76-5457C=
XM_011533031.1:c.-153-5457C= XP_011531333.1:n.-153-5457C=
XR_939707.1:n.566-5457C=
NM_001357321.1:c.-4C= NP_001344250.1:n.-4C=
XM_011533029.2:c.76-5457C= XP_011531331.1:n.76-5457C=
XM_011533030.2:c.76-5457C= XP_011531332.1:n.76-5457C=
XR_001738891.1:n.580-5457C=
XR_939707.2:n.580-5457C=
NM_022437.3:c.-4C= MANE Select NP_071882.1:n.-4C=
NM_001357321.2:c.-4C= NP_001344250.1:n.-4C=