Canonical Allele Identifier: CA388400092

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95822790T>G (hg19) ; chr13:g.95170536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170536T>G , CM000675.2:g.95170536T>G	GRCh38
NC_000013.10:g.95822790T>G , CM000675.1:g.95822790T>G	GRCh37
NC_000013.9:g.94620791T>G	NCBI36
NG_050651.1:g.135911A>C
NG_050651.2:g.135911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1853A>C	ENSP00000493766.1:n.*1853A>C
ENST00000643051.1:c.1820A>C	ENSP00000495513.1:p.Lys607Thr
ENST00000643556.1:c.1961A>C	ENSP00000494938.1:n.1961A>C
ENST00000643816.1:n.2103A>C
ENST00000643842.1:c.*1866A>C	ENSP00000493861.1:n.*1866A>C
ENST00000644471.1:n.1911A>C
ENST00000645237.2:c.1820A>C MANE Select	ENSP00000494609.1:p.Lys607Thr
ENST00000645532.1:c.1859A>C	ENSP00000494431.1:p.Lys620Thr
ENST00000646439.1:c.1820A>C	ENSP00000494751.1:p.Lys607Thr
ENST00000376887.8:c.1820A>C	ENSP00000366084.4:p.Lys607Thr
ENST00000536256.3:c.1595A>C	ENSP00000442024.1:p.Lys532Thr
ENST00000629385.1:c.1820A>C	ENSP00000487081.1:p.Lys607Thr
NM_001105515.2:c.1820A>C	NP_001098985.1:p.Lys607Thr
NM_001301829.1:c.1820A>C	NP_001288758.1:p.Lys607Thr
NM_001301830.1:c.1595A>C	NP_001288759.1:p.Lys532Thr
NM_005845.4:c.1820A>C	NP_005836.2:p.Lys607Thr
XM_005254025.2:c.1691A>C	XP_005254082.1:p.Lys564Thr
XM_006719914.1:c.1730A>C	XP_006719977.1:p.Lys577Thr
XM_011521047.1:c.1271A>C	XP_011519349.1:p.Lys424Thr
XM_017020319.1:c.1691A>C	XP_016875808.1:p.Lys564Thr
XM_017020320.2:c.1820A>C	XP_016875809.1:p.Lys607Thr
XM_017020321.1:c.305A>C	XP_016875810.1:p.Lys102Thr
XM_017020322.1:c.1691A>C	XP_016875811.1:p.Lys564Thr
NM_001105515.3:c.1820A>C	NP_001098985.1:p.Lys607Thr
NM_001301829.2:c.1820A>C	NP_001288758.1:p.Lys607Thr
NM_001301830.2:c.1595A>C	NP_001288759.1:p.Lys532Thr
NM_005845.5:c.1820A>C MANE Select	NP_005836.2:p.Lys607Thr