Canonical Allele Identifier: CA129179
Gene: ABCG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30389
ClinVar RCV Id: RCV000023341 RCV000023342 RCV000211355 RCV000419593 RCV000851365
dbSNP Id: rs2231142
ExAC: 4:89052323 G / T
gnomAD v2: 4-89052323-G-T
gnomAD v3: 4-88131171-G-T
gnomAD v4: 4-88131171-G-T
MyVariant Identifiers: chr4:g.89052323G>T (hg19) chr4:g.88131171G>T (hg38)
CIViC: CA129179
PubMed: PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:22112610 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25676789 PMID:26810134
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88131171G>T , CM000666.2:g.88131171G>T GRCh38
NC_000004.11:g.89052323G>T , CM000666.1:g.89052323G>T GRCh37
NC_000004.10:g.89271347G>T NCBI36
NG_032067.2:g.105152C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237612.8:c.421C>A MANE Select ENSP00000237612.3:p.Gln141Lys
ENST00000650821.1:c.421C>A ENSP00000498246.1:p.Gln141Lys
ENST00000237612.7:c.421C>A ENSP00000237612.3:p.Gln141Lys
ENST00000515655.5:c.421C>A ENSP00000426917.1:p.Gln141Lys
NM_001257386.1:c.421C>A NP_001244315.1:p.Gln141Lys
NM_004827.2:c.421C>A NP_004818.2:p.Gln141Lys
XM_005263354.2:c.421C>A XP_005263411.1:p.Gln141Lys
XM_005263355.2:c.421C>A XP_005263412.1:p.Gln141Lys
XM_005263356.2:c.421C>A XP_005263413.1:p.Gln141Lys
XM_011532420.1:c.421C>A XP_011530722.1:p.Gln141Lys
NM_001257386.2:c.421C>A NP_001244315.1:p.Gln141Lys
NM_001348985.1:c.421C>A NP_001335914.1:p.Gln141Lys
NM_001348986.1:c.421C>A NP_001335915.1:p.Gln141Lys
NM_001348987.1:c.421C>A NP_001335916.1:p.Gln141Lys
NM_001348988.1:c.421C>A NP_001335917.1:p.Gln141Lys
NM_001348989.1:c.421C>A NP_001335918.1:p.Gln141Lys
XM_005263355.4:c.421C>A XP_005263412.1:p.Gln141Lys
XM_011532420.3:c.421C>A XP_011530722.1:p.Gln141Lys
XM_017008852.2:c.421C>A XP_016864341.1:p.Gln141Lys
NM_004827.3:c.421C>A MANE Select NP_004818.2:p.Gln141Lys
NM_001348989.2:c.421C>A NP_001335918.1:p.Gln141Lys
Search 100 bp 5'
Search 100 bp 3'