Canonical Allele Identifier: CA959091195
Gene: ABCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2033287071

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95061405A>G , CM000675.2:g.95061405A>G GRCh38
NC_000013.10:g.95713659A>G , CM000675.1:g.95713659A>G GRCh37
NC_000013.9:g.94511660A>G NCBI36
NG_050651.1:g.245042T>C
NG_050651.2:g.245042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643051.1:c.*991+1299T>C ENSP00000495513.1:n.*991+1299T>C
ENST00000643842.1:c.*3412+1299T>C ENSP00000493861.1:n.*3412+1299T>C
ENST00000645237.2:c.3366+1299T>C MANE Select ENSP00000494609.1:n.3366+1299T>C
ENST00000646439.1:c.3225+1299T>C ENSP00000494751.1:n.3225+1299T>C
ENST00000376887.8:c.3366+1299T>C ENSP00000366084.4:n.3366+1299T>C
NM_001301829.1:c.3225+1299T>C NP_001288758.1:n.3225+1299T>C
NM_005845.4:c.3366+1299T>C NP_005836.2:n.3366+1299T>C
XM_005254025.2:c.3237+1299T>C XP_005254082.1:n.3237+1299T>C
XM_006719914.1:c.3276+1299T>C XP_006719977.1:n.3276+1299T>C
XM_011521047.1:c.2817+1299T>C XP_011519349.1:n.2817+1299T>C
XM_017020319.1:c.3237+1299T>C XP_016875808.1:n.3237+1299T>C
XM_017020321.1:c.1851+1299T>C XP_016875810.1:n.1851+1299T>C
NM_001301829.2:c.3225+1299T>C NP_001288758.1:n.3225+1299T>C
NM_005845.5:c.3366+1299T>C MANE Select NP_005836.2:n.3366+1299T>C