Canonical Allele Identifier: CA7728123

Gene: KIF7

Linked Data

• ClinVar Variation Id: 252807
• ClinVar RCV Id: RCV000239249 ; RCV000514812 ; RCV001086870 ; RCV001328108
• dbSNP Id: rs138354681
• ExAC: 15:90177008 T / C
• gnomAD v2: 15-90177008-T-C
• gnomAD v3: 15-89633777-T-C
• gnomAD v4: 15-89633777-T-C
• COSMIC: COSM3690601 ; COSM3690602
• MyVariant Identifiers: chr15:g.90177008T>C (hg19) ; chr15:g.89633777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89633777T>C , CM000677.2:g.89633777T>C	GRCh38
NC_000015.9:g.90177008T>C , CM000677.1:g.90177008T>C	GRCh37
NC_000015.8:g.87978012T>C	NCBI36
NG_030338.1:g.26675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.2624A>G	ENSP00000512678.1:p.Gln875Arg
ENST00000394412.8:c.2501A>G MANE Select	ENSP00000377934.3:p.Gln834Arg
ENST00000394412.7:c.2501A>G	ENSP00000377934.3:p.Gln834Arg
NM_198525.2:c.2501A>G	NP_940927.2:p.Gln834Arg
XM_005254902.2:c.2501A>G	XP_005254959.1:p.Gln834Arg
XM_011521531.1:c.2624A>G	XP_011519833.1:p.Gln875Arg
XM_011521532.1:c.2621A>G	XP_011519834.1:p.Gln874Arg
XM_011521533.1:c.2621A>G	XP_011519835.1:p.Gln874Arg
XM_011521534.1:c.2624A>G	XP_011519836.1:p.Gln875Arg
XM_011521535.1:c.2624A>G	XP_011519837.1:p.Gln875Arg
XM_011521536.1:c.2624A>G	XP_011519838.1:p.Gln875Arg
XM_011521537.1:c.2624A>G	XP_011519839.1:p.Gln875Arg
XM_011521531.2:c.2624A>G	XP_011519833.1:p.Gln875Arg
NM_198525.3:c.2501A>G MANE Select	NP_940927.2:p.Gln834Arg