Canonical Allele Identifier: CA32805986

Gene: KIAA0040

Linked Data

• dbSNP Id: rs537330242
• gnomAD v3: 1-175181935-G-C
• gnomAD v4: 1-175181935-G-C
• MyVariant Identifiers: chr1:g.175151071G>C (hg19) ; chr1:g.175181935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.175181935G>C , CM000663.2:g.175181935G>C	GRCh38
NC_000001.10:g.175151071G>C , CM000663.1:g.175151071G>C	GRCh37
NC_000001.9:g.173417694G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423313.6:c.-383-4251C>G MANE Select	ENSP00000462172.1:n.-383-4251C>G
ENST00000423313.5:c.-383-4251C>G	ENSP00000462172.1:n.-383-4251C>G
ENST00000444639.5:c.-383-4251C>G	ENSP00000463734.1:n.-383-4251C>G
ENST00000545251.6:c.-310+10705C>G	ENSP00000464040.1:n.-310+10705C>G
ENST00000563563.2:n.218-4251C>G
ENST00000567124.5:n.137-4251C>G
NM_001162893.1:c.-383-4251C>G	NP_001156365.1:n.-383-4251C>G
NM_001162894.1:c.-383-4251C>G	NP_001156366.1:n.-383-4251C>G
NM_001162895.1:c.-310+10705C>G	NP_001156367.1:n.-310+10705C>G
NM_014656.2:c.-383-4251C>G	NP_055471.2:n.-383-4251C>G
XM_005245628.3:c.-310+10925C>G	XP_005245685.1:n.-310+10925C>G
XM_011510182.1:c.-766-4251C>G	XP_011508484.1:n.-766-4251C>G
XM_011510183.1:c.-841-4251C>G	XP_011508485.1:n.-841-4251C>G
XM_011510184.1:c.-458-4251C>G	XP_011508486.1:n.-458-4251C>G
NM_001319230.1:c.-310+10925C>G	NP_001306159.1:n.-310+10925C>G
NM_001319231.1:c.-458-4251C>G	NP_001306160.1:n.-458-4251C>G
XM_017002911.2:c.-310+10705C>G	XP_016858400.1:n.-310+10705C>G
NM_014656.3:c.-383-4251C>G MANE Select	NP_055471.2:n.-383-4251C>G
NM_001162893.2:c.-383-4251C>G	NP_001156365.1:n.-383-4251C>G
NM_001162894.2:c.-383-4251C>G	NP_001156366.1:n.-383-4251C>G
NM_001162895.2:c.-310+10705C>G	NP_001156367.1:n.-310+10705C>G
NM_001319230.2:c.-310+10925C>G	NP_001306159.1:n.-310+10925C>G
NM_001319231.2:c.-458-4251C>G	NP_001306160.1:n.-458-4251C>G