Canonical Allele Identifier: CA100885481
Gene: ABCG2 HGNC NCBI

Linked Data

dbSNP Id: rs934095463
gnomAD v2: 4-89034454-C-A
gnomAD v4: 4-88113302-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88113302C>A , CM000666.2:g.88113302C>A GRCh38
NC_000004.11:g.89034454C>A , CM000666.1:g.89034454C>A GRCh37
NC_000004.10:g.89253478C>A NCBI36
NG_032067.2:g.123021G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237612.8:c.1194+1G>T MANE Select ENSP00000237612.3:n.1194+1G>T
ENST00000650821.1:c.1194+1G>T ENSP00000498246.1:n.1194+1G>T
ENST00000237612.7:c.1194+1G>T ENSP00000237612.3:n.1194+1G>T
ENST00000515655.5:c.1194+1G>T ENSP00000426917.1:n.1194+1G>T
NM_001257386.1:c.1194+1G>T NP_001244315.1:n.1194+1G>T
NM_004827.2:c.1194+1G>T NP_004818.2:n.1194+1G>T
XM_005263354.2:c.1194+1G>T XP_005263411.1:n.1194+1G>T
XM_005263355.2:c.1194+1G>T XP_005263412.1:n.1194+1G>T
XM_005263356.2:c.1188+1G>T XP_005263413.1:n.1188+1G>T
XM_011532420.1:c.1194+1G>T XP_011530722.1:n.1194+1G>T
NM_001257386.2:c.1194+1G>T NP_001244315.1:n.1194+1G>T
NM_001348985.1:c.1194+1G>T NP_001335914.1:n.1194+1G>T
NM_001348986.1:c.1194+1G>T NP_001335915.1:n.1194+1G>T
NM_001348987.1:c.1188+1G>T NP_001335916.1:n.1188+1G>T
NM_001348988.1:c.1194+1G>T NP_001335917.1:n.1194+1G>T
NM_001348989.1:c.1194+1G>T NP_001335918.1:n.1194+1G>T
XM_005263355.4:c.1194+1G>T XP_005263412.1:n.1194+1G>T
XM_011532420.3:c.1194+1G>T XP_011530722.1:n.1194+1G>T
XM_017008852.2:c.1188+1G>T XP_016864341.1:n.1188+1G>T
NM_004827.3:c.1194+1G>T MANE Select NP_004818.2:n.1194+1G>T
NM_001348989.2:c.1194+1G>T NP_001335918.1:n.1194+1G>T