Canonical Allele Identifier: CA959091453

Gene: ABCC4

Linked Data

• dbSNP Id: rs2033301617
• gnomAD v3: 13-95061667-G-GC
• gnomAD v4: 13-95061667-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061667_95061668insC , CM000675.2:g.95061667_95061668insC	GRCh38
NC_000013.10:g.95713921_95713922insC , CM000675.1:g.95713921_95713922insC	GRCh37
NC_000013.9:g.94511922_94511923insC	NCBI36
NG_050651.1:g.244779_244780insG
NG_050651.2:g.244779_244780insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1036_*991+1037insG	ENSP00000495513.1:n.*991+1036_*991+1037insG
ENST00000643842.1:c.*3412+1036_*3412+1037insG	ENSP00000493861.1:n.*3412+1036_*3412+1037insG
ENST00000645237.2:c.3366+1036_3366+1037insG MANE Select	ENSP00000494609.1:n.3366+1036_3366+1037insG
ENST00000646439.1:c.3225+1036_3225+1037insG	ENSP00000494751.1:n.3225+1036_3225+1037insG
ENST00000376887.8:c.3366+1036_3366+1037insG	ENSP00000366084.4:n.3366+1036_3366+1037insG
NM_001301829.1:c.3225+1036_3225+1037insG	NP_001288758.1:n.3225+1036_3225+1037insG
NM_005845.4:c.3366+1036_3366+1037insG	NP_005836.2:n.3366+1036_3366+1037insG
XM_005254025.2:c.3237+1036_3237+1037insG	XP_005254082.1:n.3237+1036_3237+1037insG
XM_006719914.1:c.3276+1036_3276+1037insG	XP_006719977.1:n.3276+1036_3276+1037insG
XM_011521047.1:c.2817+1036_2817+1037insG	XP_011519349.1:n.2817+1036_2817+1037insG
XM_017020319.1:c.3237+1036_3237+1037insG	XP_016875808.1:n.3237+1036_3237+1037insG
XM_017020321.1:c.1851+1036_1851+1037insG	XP_016875810.1:n.1851+1036_1851+1037insG
NM_001301829.2:c.3225+1036_3225+1037insG	NP_001288758.1:n.3225+1036_3225+1037insG
NM_005845.5:c.3366+1036_3366+1037insG MANE Select	NP_005836.2:n.3366+1036_3366+1037insG