Canonical Allele Identifier: CA702615303

Gene: ABCC4

Linked Data

• dbSNP Id: rs1213920380
• gnomAD v3: 13-95061462-G-C
• gnomAD v4: 13-95061462-G-C
• MyVariant Identifiers: chr13:g.95713716G>C (hg19) ; chr13:g.95061462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061462G>C , CM000675.2:g.95061462G>C	GRCh38
NC_000013.10:g.95713716G>C , CM000675.1:g.95713716G>C	GRCh37
NC_000013.9:g.94511717G>C	NCBI36
NG_050651.1:g.244985C>G
NG_050651.2:g.244985C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000643051.1:c.*991+1242C>G	ENSP00000495513.1:n.*991+1242C>G
ENST00000643842.1:c.*3412+1242C>G	ENSP00000493861.1:n.*3412+1242C>G
ENST00000645237.2:c.3366+1242C>G MANE Select	ENSP00000494609.1:n.3366+1242C>G
ENST00000646439.1:c.3225+1242C>G	ENSP00000494751.1:n.3225+1242C>G
ENST00000376887.8:c.3366+1242C>G	ENSP00000366084.4:n.3366+1242C>G
NM_001301829.1:c.3225+1242C>G	NP_001288758.1:n.3225+1242C>G
NM_005845.4:c.3366+1242C>G	NP_005836.2:n.3366+1242C>G
XM_005254025.2:c.3237+1242C>G	XP_005254082.1:n.3237+1242C>G
XM_006719914.1:c.3276+1242C>G	XP_006719977.1:n.3276+1242C>G
XM_011521047.1:c.2817+1242C>G	XP_011519349.1:n.2817+1242C>G
XM_017020319.1:c.3237+1242C>G	XP_016875808.1:n.3237+1242C>G
XM_017020321.1:c.1851+1242C>G	XP_016875810.1:n.1851+1242C>G
NM_001301829.2:c.3225+1242C>G	NP_001288758.1:n.3225+1242C>G
NM_005845.5:c.3366+1242C>G MANE Select	NP_005836.2:n.3366+1242C>G