Canonical Allele Identifier: CA100899894
Gene: ABCG2 HGNC NCBI

Linked Data

dbSNP Id: rs980516547
gnomAD v2: 4-89090696-G-T
gnomAD v3: 4-88169544-G-T
gnomAD v4: 4-88169544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88169544G>T , CM000666.2:g.88169544G>T GRCh38
NC_000004.11:g.89090696G>T , CM000666.1:g.89090696G>T GRCh37
NC_000004.10:g.89309720G>T NCBI36
NG_032067.2:g.66779C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650821.1:c.-19-29530C>A ENSP00000498246.1:n.-19-29530C>A
ENST00000515655.5:c.-19-29530C>A ENSP00000426917.1:n.-19-29530C>A
NM_001257386.1:c.-19-29530C>A NP_001244315.1:n.-19-29530C>A
XM_005263355.2:c.-19-29530C>A XP_005263412.1:n.-19-29530C>A
XM_011532420.1:c.-19-29530C>A XP_011530722.1:n.-19-29530C>A
NM_001257386.2:c.-19-29530C>A NP_001244315.1:n.-19-29530C>A
NM_001348985.1:c.-19-29530C>A NP_001335914.1:n.-19-29530C>A
XM_005263355.4:c.-19-29530C>A XP_005263412.1:n.-19-29530C>A
XM_011532420.3:c.-19-29530C>A XP_011530722.1:n.-19-29530C>A