Canonical Allele Identifier: CA254173240
Gene: ABCC4 HGNC NCBI

Linked Data

dbSNP Id: rs888781414
MyVariant Identifiers: chr13:g.95061384A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.95061384A>C , CM000675.2:g.95061384A>C GRCh38
NC_000013.10:g.95713638A>C , CM000675.1:g.95713638A>C GRCh37
NC_000013.9:g.94511639A>C NCBI36
NG_050651.1:g.245063T>G
NG_050651.2:g.245063T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643051.1:c.*991+1320T>G ENSP00000495513.1:n.*991+1320T>G
ENST00000643842.1:c.*3412+1320T>G ENSP00000493861.1:n.*3412+1320T>G
ENST00000645237.2:c.3366+1320T>G MANE Select ENSP00000494609.1:n.3366+1320T>G
ENST00000646439.1:c.3225+1320T>G ENSP00000494751.1:n.3225+1320T>G
ENST00000376887.8:c.3366+1320T>G ENSP00000366084.4:n.3366+1320T>G
NM_001301829.1:c.3225+1320T>G NP_001288758.1:n.3225+1320T>G
NM_005845.4:c.3366+1320T>G NP_005836.2:n.3366+1320T>G
XM_005254025.2:c.3237+1320T>G XP_005254082.1:n.3237+1320T>G
XM_006719914.1:c.3276+1320T>G XP_006719977.1:n.3276+1320T>G
XM_011521047.1:c.2817+1320T>G XP_011519349.1:n.2817+1320T>G
XM_017020319.1:c.3237+1320T>G XP_016875808.1:n.3237+1320T>G
XM_017020321.1:c.1851+1320T>G XP_016875810.1:n.1851+1320T>G
NM_001301829.2:c.3225+1320T>G NP_001288758.1:n.3225+1320T>G
NM_005845.5:c.3366+1320T>G MANE Select NP_005836.2:n.3366+1320T>G