Canonical Allele Identifier: CA357630249
Gene: ABCG2 HGNC NCBI

Linked Data

gnomAD v4: 4-88131081-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88131081C>G , CM000666.2:g.88131081C>G GRCh38
NC_000004.11:g.89052233C>G , CM000666.1:g.89052233C>G GRCh37
NC_000004.10:g.89271257C>G NCBI36
NG_032067.2:g.105242G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237612.8:c.511G>C MANE Select ENSP00000237612.3:p.Asp171His
ENST00000650821.1:c.511G>C ENSP00000498246.1:p.Asp171His
ENST00000237612.7:c.511G>C ENSP00000237612.3:p.Asp171His
ENST00000515655.5:c.511G>C ENSP00000426917.1:p.Asp171His
NM_001257386.1:c.511G>C NP_001244315.1:p.Asp171His
NM_004827.2:c.511G>C NP_004818.2:p.Asp171His
XM_005263354.2:c.511G>C XP_005263411.1:p.Asp171His
XM_005263355.2:c.511G>C XP_005263412.1:p.Asp171His
XM_005263356.2:c.511G>C XP_005263413.1:p.Asp171His
XM_011532420.1:c.511G>C XP_011530722.1:p.Asp171His
NM_001257386.2:c.511G>C NP_001244315.1:p.Asp171His
NM_001348985.1:c.511G>C NP_001335914.1:p.Asp171His
NM_001348986.1:c.511G>C NP_001335915.1:p.Asp171His
NM_001348987.1:c.511G>C NP_001335916.1:p.Asp171His
NM_001348988.1:c.511G>C NP_001335917.1:p.Asp171His
NM_001348989.1:c.511G>C NP_001335918.1:p.Asp171His
XM_005263355.4:c.511G>C XP_005263412.1:p.Asp171His
XM_011532420.3:c.511G>C XP_011530722.1:p.Asp171His
XM_017008852.2:c.511G>C XP_016864341.1:p.Asp171His
NM_004827.3:c.511G>C MANE Select NP_004818.2:p.Asp171His
NM_001348989.2:c.511G>C NP_001335918.1:p.Asp171His