Canonical Allele Identifier: CA388396692

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95210780-G-C
• MyVariant Identifiers: chr13:g.95863034G>C (hg19) ; chr13:g.95210780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95210780G>C , CM000675.2:g.95210780G>C	GRCh38
NC_000013.10:g.95863034G>C , CM000675.1:g.95863034G>C	GRCh37
NC_000013.9:g.94661035G>C	NCBI36
NG_050651.1:g.95667C>G
NG_050651.2:g.95667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*566C>G	ENSP00000493766.1:n.*566C>G
ENST00000643051.1:c.533C>G	ENSP00000495513.1:p.Ala178Gly
ENST00000643556.1:c.674C>G	ENSP00000494938.1:n.674C>G
ENST00000643816.1:n.816C>G
ENST00000643842.1:c.*579C>G	ENSP00000493861.1:n.*579C>G
ENST00000644471.1:n.629C>G
ENST00000645237.2:c.533C>G MANE Select	ENSP00000494609.1:p.Ala178Gly
ENST00000645532.1:c.572C>G	ENSP00000494431.1:p.Ala191Gly
ENST00000646439.1:c.533C>G	ENSP00000494751.1:p.Ala178Gly
ENST00000376887.8:c.533C>G	ENSP00000366084.4:p.Ala178Gly
ENST00000536256.3:c.308C>G	ENSP00000442024.1:p.Ala103Gly
ENST00000629385.1:c.533C>G	ENSP00000487081.1:p.Ala178Gly
NM_001105515.2:c.533C>G	NP_001098985.1:p.Ala178Gly
NM_001301829.1:c.533C>G	NP_001288758.1:p.Ala178Gly
NM_001301830.1:c.308C>G	NP_001288759.1:p.Ala103Gly
NM_005845.4:c.533C>G	NP_005836.2:p.Ala178Gly
XM_005254025.2:c.404C>G	XP_005254082.1:p.Ala135Gly
XM_006719914.1:c.533C>G	XP_006719977.1:p.Ala178Gly
XM_011521047.1:c.-17C>G	XP_011519349.1:n.-17C>G
XM_017020319.1:c.404C>G	XP_016875808.1:p.Ala135Gly
XM_017020320.2:c.533C>G	XP_016875809.1:p.Ala178Gly
XM_017020322.1:c.404C>G	XP_016875811.1:p.Ala135Gly
NM_001105515.3:c.533C>G	NP_001098985.1:p.Ala178Gly
NM_001301829.2:c.533C>G	NP_001288758.1:p.Ala178Gly
NM_001301830.2:c.308C>G	NP_001288759.1:p.Ala103Gly
NM_005845.5:c.533C>G MANE Select	NP_005836.2:p.Ala178Gly