Canonical Allele Identifier: CA3004821
Gene: ABCG2 HGNC NCBI

Linked Data

dbSNP Id: rs762343090
gnomAD v2: 4-89039357-T-A
gnomAD v3: 4-88118205-T-A
gnomAD v4: 4-88118205-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88118205T>A , CM000666.2:g.88118205T>A GRCh38
NC_000004.11:g.89039357T>A , CM000666.1:g.89039357T>A GRCh37
NC_000004.10:g.89258381T>A NCBI36
NG_032067.2:g.118118A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237612.8:c.745A>T MANE Select ENSP00000237612.3:p.Ile249Phe
ENST00000650821.1:c.745A>T ENSP00000498246.1:p.Ile249Phe
ENST00000237612.7:c.745A>T ENSP00000237612.3:p.Ile249Phe
ENST00000515655.5:c.745A>T ENSP00000426917.1:p.Ile249Phe
NM_001257386.1:c.745A>T NP_001244315.1:p.Ile249Phe
NM_004827.2:c.745A>T NP_004818.2:p.Ile249Phe
XM_005263354.2:c.745A>T XP_005263411.1:p.Ile249Phe
XM_005263355.2:c.745A>T XP_005263412.1:p.Ile249Phe
XM_005263356.2:c.745A>T XP_005263413.1:p.Ile249Phe
XM_011532420.1:c.745A>T XP_011530722.1:p.Ile249Phe
NM_001257386.2:c.745A>T NP_001244315.1:p.Ile249Phe
NM_001348985.1:c.745A>T NP_001335914.1:p.Ile249Phe
NM_001348986.1:c.745A>T NP_001335915.1:p.Ile249Phe
NM_001348987.1:c.745A>T NP_001335916.1:p.Ile249Phe
NM_001348988.1:c.745A>T NP_001335917.1:p.Ile249Phe
NM_001348989.1:c.745A>T NP_001335918.1:p.Ile249Phe
XM_005263355.4:c.745A>T XP_005263412.1:p.Ile249Phe
XM_011532420.3:c.745A>T XP_011530722.1:p.Ile249Phe
XM_017008852.2:c.745A>T XP_016864341.1:p.Ile249Phe
NM_004827.3:c.745A>T MANE Select NP_004818.2:p.Ile249Phe
NM_001348989.2:c.745A>T NP_001335918.1:p.Ile249Phe