Canonical Allele Identifier: CA891426686

Gene: KIAA0040

Linked Data

• dbSNP Id: rs1304873026
• gnomAD v3: 1-175181993-C-T
• gnomAD v4: 1-175181993-C-T
• MyVariant Identifiers: chr1:g.175151129C>T (hg19) ; chr1:g.175181993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.175181993C>T , CM000663.2:g.175181993C>T	GRCh38
NC_000001.10:g.175151129C>T , CM000663.1:g.175151129C>T	GRCh37
NC_000001.9:g.173417752C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423313.6:c.-383-4309G>A MANE Select	ENSP00000462172.1:n.-383-4309G>A
ENST00000423313.5:c.-383-4309G>A	ENSP00000462172.1:n.-383-4309G>A
ENST00000444639.5:c.-383-4309G>A	ENSP00000463734.1:n.-383-4309G>A
ENST00000545251.6:c.-310+10647G>A	ENSP00000464040.1:n.-310+10647G>A
ENST00000563563.2:n.218-4309G>A
ENST00000567124.5:n.137-4309G>A
NM_001162893.1:c.-383-4309G>A	NP_001156365.1:n.-383-4309G>A
NM_001162894.1:c.-383-4309G>A	NP_001156366.1:n.-383-4309G>A
NM_001162895.1:c.-310+10647G>A	NP_001156367.1:n.-310+10647G>A
NM_014656.2:c.-383-4309G>A	NP_055471.2:n.-383-4309G>A
XM_005245628.3:c.-310+10867G>A	XP_005245685.1:n.-310+10867G>A
XM_011510182.1:c.-766-4309G>A	XP_011508484.1:n.-766-4309G>A
XM_011510183.1:c.-841-4309G>A	XP_011508485.1:n.-841-4309G>A
XM_011510184.1:c.-458-4309G>A	XP_011508486.1:n.-458-4309G>A
NM_001319230.1:c.-310+10867G>A	NP_001306159.1:n.-310+10867G>A
NM_001319231.1:c.-458-4309G>A	NP_001306160.1:n.-458-4309G>A
XM_017002911.2:c.-310+10647G>A	XP_016858400.1:n.-310+10647G>A
NM_014656.3:c.-383-4309G>A MANE Select	NP_055471.2:n.-383-4309G>A
NM_001162893.2:c.-383-4309G>A	NP_001156365.1:n.-383-4309G>A
NM_001162894.2:c.-383-4309G>A	NP_001156366.1:n.-383-4309G>A
NM_001162895.2:c.-310+10647G>A	NP_001156367.1:n.-310+10647G>A
NM_001319230.2:c.-310+10867G>A	NP_001306159.1:n.-310+10867G>A
NM_001319231.2:c.-458-4309G>A	NP_001306160.1:n.-458-4309G>A