Canonical Allele Identifier: CA3004822

Gene: ABCG2

Linked Data

• dbSNP Id: rs557785561
• ExAC: 4:89039359 G / C
• gnomAD v2: 4-89039359-G-C
• gnomAD v3: 4-88118207-G-C
• gnomAD v4: 4-88118207-G-C
• MyVariant Identifiers: chr4:g.89039359G>C (hg19) ; chr4:g.88118207G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88118207G>C , CM000666.2:g.88118207G>C	GRCh38
NC_000004.11:g.89039359G>C , CM000666.1:g.89039359G>C	GRCh37
NC_000004.10:g.89258383G>C	NCBI36
NG_032067.2:g.118116C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237612.8:c.743C>G MANE Select	ENSP00000237612.3:p.Ser248Cys
ENST00000650821.1:c.743C>G	ENSP00000498246.1:p.Ser248Cys
ENST00000237612.7:c.743C>G	ENSP00000237612.3:p.Ser248Cys
ENST00000515655.5:c.743C>G	ENSP00000426917.1:p.Ser248Cys
NM_001257386.1:c.743C>G	NP_001244315.1:p.Ser248Cys
NM_004827.2:c.743C>G	NP_004818.2:p.Ser248Cys
XM_005263354.2:c.743C>G	XP_005263411.1:p.Ser248Cys
XM_005263355.2:c.743C>G	XP_005263412.1:p.Ser248Cys
XM_005263356.2:c.743C>G	XP_005263413.1:p.Ser248Cys
XM_011532420.1:c.743C>G	XP_011530722.1:p.Ser248Cys
NM_001257386.2:c.743C>G	NP_001244315.1:p.Ser248Cys
NM_001348985.1:c.743C>G	NP_001335914.1:p.Ser248Cys
NM_001348986.1:c.743C>G	NP_001335915.1:p.Ser248Cys
NM_001348987.1:c.743C>G	NP_001335916.1:p.Ser248Cys
NM_001348988.1:c.743C>G	NP_001335917.1:p.Ser248Cys
NM_001348989.1:c.743C>G	NP_001335918.1:p.Ser248Cys
XM_005263355.4:c.743C>G	XP_005263412.1:p.Ser248Cys
XM_011532420.3:c.743C>G	XP_011530722.1:p.Ser248Cys
XM_017008852.2:c.743C>G	XP_016864341.1:p.Ser248Cys
NM_004827.3:c.743C>G MANE Select	NP_004818.2:p.Ser248Cys
NM_001348989.2:c.743C>G	NP_001335918.1:p.Ser248Cys