Canonical Allele Identifier: CA393756863

Gene: KIF7

Linked Data

• ClinVar Variation Id: 2048037
• ClinVar RCV Id: RCV002927004
• dbSNP Id: rs1466628518
• gnomAD v2: 15-90174761-C-T
• gnomAD v3: 15-89631530-C-T
• gnomAD v4: 15-89631530-C-T
• MyVariant Identifiers: chr15:g.90174761C>T (hg19) ; chr15:g.89631530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89631530C>T , CM000677.2:g.89631530C>T	GRCh38
NC_000015.9:g.90174761C>T , CM000677.1:g.90174761C>T	GRCh37
NC_000015.8:g.87975765C>T	NCBI36
NG_030338.1:g.28922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696512.1:c.3199G>A	ENSP00000512678.1:p.Gly1067Ser
ENST00000394412.8:c.3076G>A MANE Select	ENSP00000377934.3:p.Gly1026Ser
ENST00000677187.1:n.750G>A
ENST00000394412.7:c.3076G>A	ENSP00000377934.3:p.Gly1026Ser
NM_198525.2:c.3076G>A	NP_940927.2:p.Gly1026Ser
XM_005254902.2:c.3076G>A	XP_005254959.1:p.Gly1026Ser
XM_011521531.1:c.3199G>A	XP_011519833.1:p.Gly1067Ser
XM_011521532.1:c.3196G>A	XP_011519834.1:p.Gly1066Ser
XM_011521533.1:c.3196G>A	XP_011519835.1:p.Gly1066Ser
XM_011521534.1:c.3199G>A	XP_011519836.1:p.Gly1067Ser
XM_011521535.1:c.3199G>A	XP_011519837.1:p.Gly1067Ser
XM_011521536.1:c.3199G>A	XP_011519838.1:p.Gly1067Ser
XM_011521531.2:c.3199G>A	XP_011519833.1:p.Gly1067Ser
NM_198525.3:c.3076G>A MANE Select	NP_940927.2:p.Gly1026Ser