Canonical Allele Identifier: CA710137

Gene: KDF1

Linked Data

• ClinVar Variation Id: 2638549
• ClinVar RCV Id: RCV003412972
• dbSNP Id: rs200294153
• ExAC: 1:27276604 C / T
• gnomAD v2: 1-27276604-C-T
• gnomAD v3: 1-26950113-C-T
• gnomAD v4: 1-26950113-C-T
• MyVariant Identifiers: chr1:g.27276604C>T (hg19) ; chr1:g.26950113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26950113C>T , CM000663.2:g.26950113C>T	GRCh38
NC_000001.10:g.27276604C>T , CM000663.1:g.27276604C>T	GRCh37
NC_000001.9:g.27149191C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320567.6:c.1153G>A MANE Select	ENSP00000319179.5:p.Asp385Asn
ENST00000320567.5:c.1153G>A	ENSP00000319179.5:p.Asp385Asn
ENST00000616918.1:c.*411G>A	ENSP00000481107.1:n.*411G>A
NM_152365.2:c.1153G>A	NP_689578.2:p.Asp385Asn
XM_005245735.2:c.1153G>A	XP_005245792.1:p.Asp385Asn
XM_011540622.1:c.1153G>A	XP_011538924.1:p.Asp385Asn
XM_011540622.2:c.1153G>A	XP_011538924.1:p.Asp385Asn
NM_152365.3:c.1153G>A MANE Select	NP_689578.2:p.Asp385Asn