Canonical Allele Identifier: CA2658820462
Gene: ABCG8 HGNC NCBI

Linked Data

gnomAD v4: 2-43838936-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43838936C>T , CM000664.2:g.43838936C>T GRCh38
NC_000002.11:g.44066075C>T , CM000664.1:g.44066075C>T GRCh37
NC_000002.10:g.43919579C>T NCBI36
NG_008883.1:g.4884G>A
NG_008884.1:g.4973C>T
NG_008884.2:g.11995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643284.1:n.521-5571C>T
ENST00000644611.1:c.76-5571C>T ENSP00000495423.1:n.76-5571C>T
XM_011533029.1:c.76-5571C>T XP_011531331.1:n.76-5571C>T
XM_011533030.1:c.76-5571C>T XP_011531332.1:n.76-5571C>T
XM_011533031.1:c.-153-5571C>T XP_011531333.1:n.-153-5571C>T
XR_939707.1:n.566-5571C>T
XM_011533029.2:c.76-5571C>T XP_011531331.1:n.76-5571C>T
XM_011533030.2:c.76-5571C>T XP_011531332.1:n.76-5571C>T
XR_001738891.1:n.580-5571C>T
XR_939707.2:n.580-5571C>T