Canonical Allele Identifier: CA484495059
Gene: ABCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.95863021A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95210767A>G , CM000675.2:g.95210767A>G GRCh38
NC_000013.10:g.95863021A>G , CM000675.1:g.95863021A>G GRCh37
NC_000013.9:g.94661022A>G NCBI36
NG_050651.1:g.95680T>C
NG_050651.2:g.95680T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642524.1:c.*579T>C ENSP00000493766.1:n.*579T>C
ENST00000643051.1:c.546T>C ENSP00000495513.1:p.Ser182=
ENST00000643556.1:c.687T>C ENSP00000494938.1:n.687T>C
ENST00000643816.1:n.829T>C
ENST00000643842.1:c.*592T>C ENSP00000493861.1:n.*592T>C
ENST00000644471.1:n.642T>C
ENST00000645237.2:c.546T>C MANE Select ENSP00000494609.1:p.Ser182=
ENST00000645532.1:c.585T>C ENSP00000494431.1:p.Ser195=
ENST00000646439.1:c.546T>C ENSP00000494751.1:p.Ser182=
ENST00000376887.8:c.546T>C ENSP00000366084.4:p.Ser182=
ENST00000536256.3:c.321T>C ENSP00000442024.1:p.Ser107=
ENST00000629385.1:c.546T>C ENSP00000487081.1:p.Ser182=
NM_001105515.2:c.546T>C NP_001098985.1:p.Ser182=
NM_001301829.1:c.546T>C NP_001288758.1:p.Ser182=
NM_001301830.1:c.321T>C NP_001288759.1:p.Ser107=
NM_005845.4:c.546T>C NP_005836.2:p.Ser182=
XM_005254025.2:c.417T>C XP_005254082.1:p.Ser139=
XM_006719914.1:c.546T>C XP_006719977.1:p.Ser182=
XM_011521047.1:c.-4T>C XP_011519349.1:n.-4T>C
XM_017020319.1:c.417T>C XP_016875808.1:p.Ser139=
XM_017020320.2:c.546T>C XP_016875809.1:p.Ser182=
XM_017020322.1:c.417T>C XP_016875811.1:p.Ser139=
NM_001105515.3:c.546T>C NP_001098985.1:p.Ser182=
NM_001301829.2:c.546T>C NP_001288758.1:p.Ser182=
NM_001301830.2:c.321T>C NP_001288759.1:p.Ser107=
NM_005845.5:c.546T>C MANE Select NP_005836.2:p.Ser182=