Canonical Allele Identifier: CA2112112229

Gene: ABCC4

Linked Data

• dbSNP Id: rs2037434441

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170595dup , CM000675.2:g.95170595dup	GRCh38
NC_000013.10:g.95822849dup , CM000675.1:g.95822849dup	GRCh37
NC_000013.9:g.94620850dup	NCBI36
NG_050651.1:g.135853dup
NG_050651.2:g.135853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1795dup	ENSP00000493766.1:n.*1795dup
ENST00000643051.1:c.1762dup	ENSP00000495513.1:p.Ile588AsnfsTer23
ENST00000643556.1:c.1903dup	ENSP00000494938.1:n.1903dup
ENST00000643816.1:n.2045dup
ENST00000643842.1:c.*1808dup	ENSP00000493861.1:n.*1808dup
ENST00000644471.1:n.1853dup
ENST00000645237.2:c.1762dup MANE Select	ENSP00000494609.1:p.Ile588AsnfsTer23
ENST00000645532.1:c.1801dup	ENSP00000494431.1:p.Ile601AsnfsTer23
ENST00000646439.1:c.1762dup	ENSP00000494751.1:p.Ile588AsnfsTer23
ENST00000376887.8:c.1762dup	ENSP00000366084.4:p.Ile588AsnfsTer23
ENST00000536256.3:c.1537dup	ENSP00000442024.1:p.Ile513AsnfsTer23
ENST00000629385.1:c.1762dup	ENSP00000487081.1:p.Ile588AsnfsTer23
NM_001105515.2:c.1762dup	NP_001098985.1:p.Ile588AsnfsTer23
NM_001301829.1:c.1762dup	NP_001288758.1:p.Ile588AsnfsTer23
NM_001301830.1:c.1537dup	NP_001288759.1:p.Ile513AsnfsTer23
NM_005845.4:c.1762dup	NP_005836.2:p.Ile588AsnfsTer23
XM_005254025.2:c.1633dup	XP_005254082.1:p.Ile545AsnfsTer23
XM_006719914.1:c.1672dup	XP_006719977.1:p.Ile558AsnfsTer23
XM_011521047.1:c.1213dup	XP_011519349.1:p.Ile405AsnfsTer23
XM_017020319.1:c.1633dup	XP_016875808.1:p.Ile545AsnfsTer23
XM_017020320.2:c.1762dup	XP_016875809.1:p.Ile588AsnfsTer23
XM_017020321.1:c.247dup	XP_016875810.1:p.Ile83AsnfsTer23
XM_017020322.1:c.1633dup	XP_016875811.1:p.Ile545AsnfsTer23
NM_001105515.3:c.1762dup	NP_001098985.1:p.Ile588AsnfsTer23
NM_001301829.2:c.1762dup	NP_001288758.1:p.Ile588AsnfsTer23
NM_001301830.2:c.1537dup	NP_001288759.1:p.Ile513AsnfsTer23
NM_005845.5:c.1762dup MANE Select	NP_005836.2:p.Ile588AsnfsTer23