Canonical Allele Identifier: CA254232586

Gene: ABCC4

Linked Data

• dbSNP Id: rs113744972
• gnomAD v3: 13-95123048-C-T
• gnomAD v4: 13-95123048-C-T
• MyVariant Identifiers: chr13:g.95775302C>T (hg19) ; chr13:g.95123048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95123048C>T , CM000675.2:g.95123048C>T	GRCh38
NC_000013.10:g.95775302C>T , CM000675.1:g.95775302C>T	GRCh37
NC_000013.9:g.94573303C>T	NCBI36
NG_050651.1:g.183399G>A
NG_050651.2:g.183399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*81-7047G>A	ENSP00000495513.1:n.*81-7047G>A
ENST00000643556.1:c.2597-7047G>A	ENSP00000494938.1:n.2597-7047G>A
ENST00000643816.1:n.2739-7047G>A
ENST00000643842.1:c.*2502-7047G>A	ENSP00000493861.1:n.*2502-7047G>A
ENST00000644880.1:n.66-7047G>A
ENST00000645237.2:c.2456-7047G>A MANE Select	ENSP00000494609.1:n.2456-7047G>A
ENST00000646439.1:c.2315-7047G>A	ENSP00000494751.1:n.2315-7047G>A
ENST00000376887.8:c.2456-7047G>A	ENSP00000366084.4:n.2456-7047G>A
ENST00000536256.3:c.2231-7047G>A	ENSP00000442024.1:n.2231-7047G>A
ENST00000629385.1:c.2456-7047G>A	ENSP00000487081.1:n.2456-7047G>A
NM_001105515.2:c.2456-7047G>A	NP_001098985.1:n.2456-7047G>A
NM_001301829.1:c.2315-7047G>A	NP_001288758.1:n.2315-7047G>A
NM_001301830.1:c.2231-7047G>A	NP_001288759.1:n.2231-7047G>A
NM_005845.4:c.2456-7047G>A	NP_005836.2:n.2456-7047G>A
XM_005254025.2:c.2327-7047G>A	XP_005254082.1:n.2327-7047G>A
XM_006719914.1:c.2366-7047G>A	XP_006719977.1:n.2366-7047G>A
XM_011521047.1:c.1907-7047G>A	XP_011519349.1:n.1907-7047G>A
XM_017020319.1:c.2327-7047G>A	XP_016875808.1:n.2327-7047G>A
XM_017020321.1:c.941-7047G>A	XP_016875810.1:n.941-7047G>A
XM_017020322.1:c.2327-7047G>A	XP_016875811.1:n.2327-7047G>A
NM_001105515.3:c.2456-7047G>A	NP_001098985.1:n.2456-7047G>A
NM_001301829.2:c.2315-7047G>A	NP_001288758.1:n.2315-7047G>A
NM_001301830.2:c.2231-7047G>A	NP_001288759.1:n.2231-7047G>A
NM_005845.5:c.2456-7047G>A MANE Select	NP_005836.2:n.2456-7047G>A