Canonical Allele Identifier: CA254232658
Gene: ABCC4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95123178C>T , CM000675.2:g.95123178C>T GRCh38
NC_000013.10:g.95775432C>T , CM000675.1:g.95775432C>T GRCh37
NC_000013.9:g.94573433C>T NCBI36
NG_050651.1:g.183269G>A
NG_050651.2:g.183269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643051.1:c.*81-7177G>A ENSP00000495513.1:n.*81-7177G>A
ENST00000643556.1:c.2597-7177G>A ENSP00000494938.1:n.2597-7177G>A
ENST00000643816.1:n.2739-7177G>A
ENST00000643842.1:c.*2502-7177G>A ENSP00000493861.1:n.*2502-7177G>A
ENST00000644880.1:n.66-7177G>A
ENST00000645237.2:c.2456-7177G>A MANE Select ENSP00000494609.1:n.2456-7177G>A
ENST00000646439.1:c.2315-7177G>A ENSP00000494751.1:n.2315-7177G>A
ENST00000376887.8:c.2456-7177G>A ENSP00000366084.4:n.2456-7177G>A
ENST00000536256.3:c.2231-7177G>A ENSP00000442024.1:n.2231-7177G>A
ENST00000629385.1:c.2456-7177G>A ENSP00000487081.1:n.2456-7177G>A
NM_001105515.2:c.2456-7177G>A NP_001098985.1:n.2456-7177G>A
NM_001301829.1:c.2315-7177G>A NP_001288758.1:n.2315-7177G>A
NM_001301830.1:c.2231-7177G>A NP_001288759.1:n.2231-7177G>A
NM_005845.4:c.2456-7177G>A NP_005836.2:n.2456-7177G>A
XM_005254025.2:c.2327-7177G>A XP_005254082.1:n.2327-7177G>A
XM_006719914.1:c.2366-7177G>A XP_006719977.1:n.2366-7177G>A
XM_011521047.1:c.1907-7177G>A XP_011519349.1:n.1907-7177G>A
XM_017020319.1:c.2327-7177G>A XP_016875808.1:n.2327-7177G>A
XM_017020321.1:c.941-7177G>A XP_016875810.1:n.941-7177G>A
XM_017020322.1:c.2327-7177G>A XP_016875811.1:n.2327-7177G>A
NM_001105515.3:c.2456-7177G>A NP_001098985.1:n.2456-7177G>A
NM_001301829.2:c.2315-7177G>A NP_001288758.1:n.2315-7177G>A
NM_001301830.2:c.2231-7177G>A NP_001288759.1:n.2231-7177G>A
NM_005845.5:c.2456-7177G>A MANE Select NP_005836.2:n.2456-7177G>A
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