Canonical Allele Identifier: CA2493964857
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877298C= , CM000664.2:g.43877298C= GRCh38
NC_000002.11:g.44104437C= , CM000664.1:g.44104437C= GRCh37
NC_000002.10:g.43957941C= NCBI36
NG_008884.1:g.43335C=
NG_008884.2:g.50357C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1757-263C= MANE Select ENSP00000272286.2:n.1757-263C=
ENST00000272286.2:c.1757-263C= ENSP00000272286.2:n.1757-263C=
NM_022437.2:c.1757-263C= NP_071882.1:n.1757-263C=
XM_005264483.2:c.1754-263C= XP_005264540.1:n.1754-263C=
XM_011533029.1:c.1769-263C= XP_011531331.1:n.1769-263C=
XM_011533030.1:c.1766-263C= XP_011531332.1:n.1766-263C=
XM_011533031.1:c.1541-263C= XP_011531333.1:n.1541-263C=
XR_939707.1:n.2259-263C=
NM_001357321.1:c.1754-263C= NP_001344250.1:n.1754-263C=
XM_011533029.2:c.1769-263C= XP_011531331.1:n.1769-263C=
XM_011533030.2:c.1766-263C= XP_011531332.1:n.1766-263C=
XR_001738891.1:n.2273-263C=
XR_939707.2:n.2273-263C=
NM_022437.3:c.1757-263C= MANE Select NP_071882.1:n.1757-263C=
NM_001357321.2:c.1754-263C= NP_001344250.1:n.1754-263C=