Canonical Allele Identifier: CA357627736
Gene: ABCG2 HGNC NCBI

Linked Data

dbSNP Id: rs755263576
gnomAD v2: 4-89039312-G-A
gnomAD v3: 4-88118160-G-A
gnomAD v4: 4-88118160-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88118160G>A , CM000666.2:g.88118160G>A GRCh38
NC_000004.11:g.89039312G>A , CM000666.1:g.89039312G>A GRCh37
NC_000004.10:g.89258336G>A NCBI36
NG_032067.2:g.118163C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237612.8:c.790C>T MANE Select ENSP00000237612.3:p.Leu264Phe
ENST00000650821.1:c.790C>T ENSP00000498246.1:p.Leu264Phe
ENST00000237612.7:c.790C>T ENSP00000237612.3:p.Leu264Phe
ENST00000515655.5:c.790C>T ENSP00000426917.1:p.Leu264Phe
NM_001257386.1:c.790C>T NP_001244315.1:p.Leu264Phe
NM_004827.2:c.790C>T NP_004818.2:p.Leu264Phe
XM_005263354.2:c.790C>T XP_005263411.1:p.Leu264Phe
XM_005263355.2:c.790C>T XP_005263412.1:p.Leu264Phe
XM_005263356.2:c.790C>T XP_005263413.1:p.Leu264Phe
XM_011532420.1:c.790C>T XP_011530722.1:p.Leu264Phe
NM_001257386.2:c.790C>T NP_001244315.1:p.Leu264Phe
NM_001348985.1:c.790C>T NP_001335914.1:p.Leu264Phe
NM_001348986.1:c.790C>T NP_001335915.1:p.Leu264Phe
NM_001348987.1:c.790C>T NP_001335916.1:p.Leu264Phe
NM_001348988.1:c.790C>T NP_001335917.1:p.Leu264Phe
NM_001348989.1:c.790C>T NP_001335918.1:p.Leu264Phe
XM_005263355.4:c.790C>T XP_005263412.1:p.Leu264Phe
XM_011532420.3:c.790C>T XP_011530722.1:p.Leu264Phe
XM_017008852.2:c.790C>T XP_016864341.1:p.Leu264Phe
NM_004827.3:c.790C>T MANE Select NP_004818.2:p.Leu264Phe
NM_001348989.2:c.790C>T NP_001335918.1:p.Leu264Phe