Canonical Allele Identifier: CA100893416

Gene: ABCG2

Linked Data

• dbSNP Id: rs748375556
• gnomAD v2: 4-89052143-G-C
• gnomAD v3: 4-88130991-G-C
• gnomAD v4: 4-88130991-G-C
• MyVariant Identifiers: chr4:g.89052143G>C (hg19) ; chr4:g.88130991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88130991G>C , CM000666.2:g.88130991G>C	GRCh38
NC_000004.11:g.89052143G>C , CM000666.1:g.89052143G>C	GRCh37
NC_000004.10:g.89271167G>C	NCBI36
NG_032067.2:g.105332C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237612.8:c.531+70C>G MANE Select	ENSP00000237612.3:n.531+70C>G
ENST00000650821.1:c.531+70C>G	ENSP00000498246.1:n.531+70C>G
ENST00000237612.7:c.531+70C>G	ENSP00000237612.3:n.531+70C>G
ENST00000515655.5:c.531+70C>G	ENSP00000426917.1:n.531+70C>G
NM_001257386.1:c.531+70C>G	NP_001244315.1:n.531+70C>G
NM_004827.2:c.531+70C>G	NP_004818.2:n.531+70C>G
XM_005263354.2:c.531+70C>G	XP_005263411.1:n.531+70C>G
XM_005263355.2:c.531+70C>G	XP_005263412.1:n.531+70C>G
XM_005263356.2:c.531+70C>G	XP_005263413.1:n.531+70C>G
XM_011532420.1:c.531+70C>G	XP_011530722.1:n.531+70C>G
NM_001257386.2:c.531+70C>G	NP_001244315.1:n.531+70C>G
NM_001348985.1:c.531+70C>G	NP_001335914.1:n.531+70C>G
NM_001348986.1:c.531+70C>G	NP_001335915.1:n.531+70C>G
NM_001348987.1:c.531+70C>G	NP_001335916.1:n.531+70C>G
NM_001348988.1:c.531+70C>G	NP_001335917.1:n.531+70C>G
NM_001348989.1:c.531+70C>G	NP_001335918.1:n.531+70C>G
XM_005263355.4:c.531+70C>G	XP_005263412.1:n.531+70C>G
XM_011532420.3:c.531+70C>G	XP_011530722.1:n.531+70C>G
XM_017008852.2:c.531+70C>G	XP_016864341.1:n.531+70C>G
NM_004827.3:c.531+70C>G MANE Select	NP_004818.2:n.531+70C>G
NM_001348989.2:c.531+70C>G	NP_001335918.1:n.531+70C>G