Canonical Allele Identifier: CA388396700
Gene: ABCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95210782C>G , CM000675.2:g.95210782C>G GRCh38
NC_000013.10:g.95863036C>G , CM000675.1:g.95863036C>G GRCh37
NC_000013.9:g.94661037C>G NCBI36
NG_050651.1:g.95665G>C
NG_050651.2:g.95665G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642524.1:c.*565-1G>C ENSP00000493766.1:n.*565-1G>C
ENST00000643051.1:c.532-1G>C ENSP00000495513.1:n.532-1G>C
ENST00000643556.1:c.673-1G>C ENSP00000494938.1:n.673-1G>C
ENST00000643816.1:n.815-1G>C
ENST00000643842.1:c.*578-1G>C ENSP00000493861.1:n.*578-1G>C
ENST00000644471.1:n.628-1G>C
ENST00000645237.2:c.532-1G>C MANE Select ENSP00000494609.1:n.532-1G>C
ENST00000645532.1:c.571-1G>C ENSP00000494431.1:n.571-1G>C
ENST00000646439.1:c.532-1G>C ENSP00000494751.1:n.532-1G>C
ENST00000376887.8:c.532-1G>C ENSP00000366084.4:n.532-1G>C
ENST00000536256.3:c.307-1G>C ENSP00000442024.1:n.307-1G>C
ENST00000629385.1:c.532-1G>C ENSP00000487081.1:n.532-1G>C
NM_001105515.2:c.532-1G>C NP_001098985.1:n.532-1G>C
NM_001301829.1:c.532-1G>C NP_001288758.1:n.532-1G>C
NM_001301830.1:c.307-1G>C NP_001288759.1:n.307-1G>C
NM_005845.4:c.532-1G>C NP_005836.2:n.532-1G>C
XM_005254025.2:c.403-1G>C XP_005254082.1:n.403-1G>C
XM_006719914.1:c.532-1G>C XP_006719977.1:n.532-1G>C
XM_011521047.1:c.-18-1G>C XP_011519349.1:n.-18-1G>C
XM_017020319.1:c.403-1G>C XP_016875808.1:n.403-1G>C
XM_017020320.2:c.532-1G>C XP_016875809.1:n.532-1G>C
XM_017020322.1:c.403-1G>C XP_016875811.1:n.403-1G>C
NM_001105515.3:c.532-1G>C NP_001098985.1:n.532-1G>C
NM_001301829.2:c.532-1G>C NP_001288758.1:n.532-1G>C
NM_001301830.2:c.307-1G>C NP_001288759.1:n.307-1G>C
NM_005845.5:c.532-1G>C MANE Select NP_005836.2:n.532-1G>C