Canonical Allele Identifier: CA7728276

Gene: KIF7

Linked Data

• ClinVar Variation Id: 263141
• ClinVar RCV Id: RCV000251118 ; RCV000368532 ; RCV001699093
• dbSNP Id: rs201251064
• ExAC: 15:90185649 G / A
• gnomAD v2: 15-90185649-G-A
• gnomAD v3: 15-89642418-G-A
• gnomAD v4: 15-89642418-G-A
• MyVariant Identifiers: chr15:g.90185649G>A (hg19) ; chr15:g.89642418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89642418G>A , CM000677.2:g.89642418G>A	GRCh38
NC_000015.9:g.90185649G>A , CM000677.1:g.90185649G>A	GRCh37
NC_000015.8:g.87986653G>A	NCBI36
NG_030338.1:g.18034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.2315-13C>T	ENSP00000512678.1:n.2315-13C>T
ENST00000394412.8:c.2192-13C>T MANE Select	ENSP00000377934.3:n.2192-13C>T
ENST00000394412.7:c.2192-13C>T	ENSP00000377934.3:n.2192-13C>T
NM_198525.2:c.2192-13C>T	NP_940927.2:n.2192-13C>T
XM_005254902.2:c.2192-13C>T	XP_005254959.1:n.2192-13C>T
XM_011521531.1:c.2315-13C>T	XP_011519833.1:n.2315-13C>T
XM_011521532.1:c.2312-13C>T	XP_011519834.1:n.2312-13C>T
XM_011521533.1:c.2312-13C>T	XP_011519835.1:n.2312-13C>T
XM_011521534.1:c.2315-13C>T	XP_011519836.1:n.2315-13C>T
XM_011521535.1:c.2315-13C>T	XP_011519837.1:n.2315-13C>T
XM_011521536.1:c.2315-13C>T	XP_011519838.1:n.2315-13C>T
XM_011521537.1:c.2315-13C>T	XP_011519839.1:n.2315-13C>T
XM_011521531.2:c.2315-13C>T	XP_011519833.1:n.2315-13C>T
NM_198525.3:c.2192-13C>T MANE Select	NP_940927.2:n.2192-13C>T