Canonical Allele Identifier: CA243769158

Gene: IQCD

Linked Data

• dbSNP Id: rs34767568
• gnomAD v2: 12-113640222-C-T
• gnomAD v3: 12-113202417-C-T
• gnomAD v4: 12-113202417-C-T
• MyVariant Identifiers: chr12:g.113640222C>T (hg19) ; chr12:g.113202417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.113202417C>T , CM000674.2:g.113202417C>T	GRCh38
NC_000012.11:g.113640222C>T , CM000674.1:g.113640222C>T	GRCh37
NC_000012.10:g.112124605C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416617.3:c.730-1604G>A MANE Select	ENSP00000400669.2:n.730-1604G>A
ENST00000299732.6:c.729+5021G>A	ENSP00000299732.2:n.729+5021G>A
ENST00000416617.2:c.730-1604G>A	ENSP00000400669.2:n.730-1604G>A
ENST00000546692.1:c.730-1604G>A	ENSP00000446623.1:n.730-1604G>A
NM_138451.2:c.729+5021G>A	NP_612460.1:n.729+5021G>A
XM_005253832.3:c.730-1604G>A	XP_005253889.1:n.730-1604G>A
XM_005253833.3:c.730-1604G>A	XP_005253890.1:n.730-1604G>A
XM_005253834.3:c.187-1604G>A	XP_005253891.1:n.187-1604G>A
XM_011537862.1:c.730-1604G>A	XP_011536164.1:n.730-1604G>A
XM_011537863.1:c.730-1604G>A	XP_011536165.1:n.730-1604G>A
XM_011537864.1:c.730-4805G>A	XP_011536166.1:n.730-4805G>A
XM_011537865.1:c.187-4805G>A	XP_011536167.1:n.187-4805G>A
XM_011537866.1:c.-57-4805G>A	XP_011536168.1:n.-57-4805G>A
NM_001330452.1:c.730-1604G>A	NP_001317381.1:n.730-1604G>A
XM_005253833.4:c.730-1604G>A	XP_005253890.1:n.730-1604G>A
XM_005253834.4:c.187-1604G>A	XP_005253891.1:n.187-1604G>A
XM_011537862.2:c.730-1604G>A	XP_011536164.1:n.730-1604G>A
XM_011537863.2:c.730-1604G>A	XP_011536165.1:n.730-1604G>A
XM_011537864.2:c.730-4805G>A	XP_011536166.1:n.730-4805G>A
NM_001330452.2:c.730-1604G>A MANE Select	NP_001317381.1:n.730-1604G>A
NM_138451.3:c.729+5021G>A	NP_612460.1:n.729+5021G>A