Canonical Allele Identifier: CA769056711
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1395860360
gnomAD v3: 2-43838952-G-T
gnomAD v4: 2-43838952-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43838952G>T , CM000664.2:g.43838952G>T GRCh38
NC_000002.11:g.44066091G>T , CM000664.1:g.44066091G>T GRCh37
NC_000002.10:g.43919595G>T NCBI36
NG_008883.1:g.4868C>A
NG_008884.1:g.4989G>T
NG_008884.2:g.12011G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643284.1:n.521-5555G>T
ENST00000644611.1:c.76-5555G>T ENSP00000495423.1:n.76-5555G>T
XM_011533029.1:c.76-5555G>T XP_011531331.1:n.76-5555G>T
XM_011533030.1:c.76-5555G>T XP_011531332.1:n.76-5555G>T
XM_011533031.1:c.-153-5555G>T XP_011531333.1:n.-153-5555G>T
XR_939707.1:n.566-5555G>T
XM_011533029.2:c.76-5555G>T XP_011531331.1:n.76-5555G>T
XM_011533030.2:c.76-5555G>T XP_011531332.1:n.76-5555G>T
XR_001738891.1:n.580-5555G>T
XR_939707.2:n.580-5555G>T