Canonical Allele Identifier: CA388398781

Gene: ABCC4

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95166157C>A , CM000675.2:g.95166157C>A	GRCh38
NC_000013.10:g.95818411C>A , CM000675.1:g.95818411C>A	GRCh37
NC_000013.9:g.94616412C>A	NCBI36
NG_050651.1:g.140290G>T
NG_050651.2:g.140290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.2034+1G>T	ENSP00000495513.1:n.2034+1G>T
ENST00000643556.1:c.2175+1G>T	ENSP00000494938.1:n.2175+1G>T
ENST00000643816.1:n.2317+1G>T
ENST00000643842.1:c.*2080+1G>T	ENSP00000493861.1:n.*2080+1G>T
ENST00000645237.2:c.2034+1G>T MANE Select	ENSP00000494609.1:n.2034+1G>T
ENST00000646439.1:c.2034+1G>T	ENSP00000494751.1:n.2034+1G>T
ENST00000376887.8:c.2034+1G>T	ENSP00000366084.4:n.2034+1G>T
ENST00000536256.3:c.1809+1G>T	ENSP00000442024.1:n.1809+1G>T
ENST00000629385.1:c.2034+1G>T	ENSP00000487081.1:n.2034+1G>T
NM_001105515.2:c.2034+1G>T	NP_001098985.1:n.2034+1G>T
NM_001301829.1:c.2034+1G>T	NP_001288758.1:n.2034+1G>T
NM_001301830.1:c.1809+1G>T	NP_001288759.1:n.1809+1G>T
NM_005845.4:c.2034+1G>T	NP_005836.2:n.2034+1G>T
XM_005254025.2:c.1905+1G>T	XP_005254082.1:n.1905+1G>T
XM_006719914.1:c.1944+1G>T	XP_006719977.1:n.1944+1G>T
XM_011521047.1:c.1485+1G>T	XP_011519349.1:n.1485+1G>T
XM_017020319.1:c.1905+1G>T	XP_016875808.1:n.1905+1G>T
XM_017020320.2:c.2034+1G>T	XP_016875809.1:n.2034+1G>T
XM_017020321.1:c.519+1G>T	XP_016875810.1:n.519+1G>T
XM_017020322.1:c.1905+1G>T	XP_016875811.1:n.1905+1G>T
NM_001105515.3:c.2034+1G>T	NP_001098985.1:n.2034+1G>T
NM_001301829.2:c.2034+1G>T	NP_001288758.1:n.2034+1G>T
NM_001301830.2:c.1809+1G>T	NP_001288759.1:n.1809+1G>T
NM_005845.5:c.2034+1G>T MANE Select	NP_005836.2:n.2034+1G>T