Canonical Allele Identifier: CA388396565

Gene: ABCC4

Linked Data

• MyVariant Identifiers: chr13:g.95863009C>G (hg19) ; chr13:g.95210755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95210755C>G , CM000675.2:g.95210755C>G	GRCh38
NC_000013.10:g.95863009C>G , CM000675.1:g.95863009C>G	GRCh37
NC_000013.9:g.94661010C>G	NCBI36
NG_050651.1:g.95692G>C
NG_050651.2:g.95692G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*591G>C	ENSP00000493766.1:n.*591G>C
ENST00000643051.1:c.558G>C	ENSP00000495513.1:p.Met186Ile
ENST00000643556.1:c.699G>C	ENSP00000494938.1:n.699G>C
ENST00000643816.1:n.841G>C
ENST00000643842.1:c.*604G>C	ENSP00000493861.1:n.*604G>C
ENST00000644471.1:n.654G>C
ENST00000645237.2:c.558G>C MANE Select	ENSP00000494609.1:p.Met186Ile
ENST00000645532.1:c.597G>C	ENSP00000494431.1:p.Met199Ile
ENST00000646439.1:c.558G>C	ENSP00000494751.1:p.Met186Ile
ENST00000376887.8:c.558G>C	ENSP00000366084.4:p.Met186Ile
ENST00000536256.3:c.333G>C	ENSP00000442024.1:p.Met111Ile
ENST00000629385.1:c.558G>C	ENSP00000487081.1:p.Met186Ile
NM_001105515.2:c.558G>C	NP_001098985.1:p.Met186Ile
NM_001301829.1:c.558G>C	NP_001288758.1:p.Met186Ile
NM_001301830.1:c.333G>C	NP_001288759.1:p.Met111Ile
NM_005845.4:c.558G>C	NP_005836.2:p.Met186Ile
XM_005254025.2:c.429G>C	XP_005254082.1:p.Met143Ile
XM_006719914.1:c.558G>C	XP_006719977.1:p.Met186Ile
XM_011521047.1:c.9G>C	XP_011519349.1:p.Met3Ile
XM_017020319.1:c.429G>C	XP_016875808.1:p.Met143Ile
XM_017020320.2:c.558G>C	XP_016875809.1:p.Met186Ile
XM_017020322.1:c.429G>C	XP_016875811.1:p.Met143Ile
NM_001105515.3:c.558G>C	NP_001098985.1:p.Met186Ile
NM_001301829.2:c.558G>C	NP_001288758.1:p.Met186Ile
NM_001301830.2:c.333G>C	NP_001288759.1:p.Met111Ile
NM_005845.5:c.558G>C MANE Select	NP_005836.2:p.Met186Ile