Canonical Allele Identifier: CA901780452

Gene: RFTN1 OXNAD1

Linked Data

• dbSNP Id: rs690037
• MyVariant Identifiers: chr3:g.16395668C>G (hg19) ; chr3:g.16354161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.16354161C>G , CM000665.2:g.16354161C>G	GRCh38
NC_000003.11:g.16395668C>G , CM000665.1:g.16395668C>G	GRCh37
NC_000003.10:g.16370672C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334133.9:c.1146+3771G>C (RFTN1) MANE Select	ENSP00000334153.4:n.1146+3771G>C
ENST00000334133.8:c.1146+3771G>C (RFTN1)	ENSP00000334153.4:n.1146+3771G>C
ENST00000432519.5:c.1038+3771G>C (RFTN1)	ENSP00000403926.1:n.1038+3771G>C
ENST00000483671.1:n.425+3771G>C (RFTN1)
NM_015150.1:c.1146+3771G>C (RFTN1)	NP_055965.1:n.1146+3771G>C
XM_005264985.1:c.1146+3771G>C (RFTN1)	XP_005265042.1:n.1146+3771G>C
XM_005264986.1:c.1146+3771G>C (RFTN1)	XP_005265043.1:n.1146+3771G>C
XM_005264987.2:c.1056+3771G>C (RFTN1)	XP_005265044.1:n.1056+3771G>C
XM_006713069.1:c.1146+3771G>C (RFTN1)	XP_006713132.1:n.1146+3771G>C
XM_011533529.1:c.1251+3771G>C (RFTN1)	XP_011531831.1:n.1251+3771G>C
XM_011533530.1:c.1146+3771G>C (RFTN1)	XP_011531832.1:n.1146+3771G>C
XM_011533531.1:c.1135+15915G>C (RFTN1)	XP_011531833.1:n.1135+15915G>C
XM_011534234.1:c.*31-30304C>G (OXNAD1)	XP_011532536.1:n.*31-30304C>G
XM_005264986.2:c.1146+3771G>C (RFTN1)	XP_005265043.1:n.1146+3771G>C
XM_011534234.3:c.*31-30304C>G (OXNAD1)	XP_011532536.1:n.*31-30304C>G
XM_017006005.1:c.1251+3771G>C (RFTN1)	XP_016861494.1:n.1251+3771G>C
XM_017006006.2:c.1135+15915G>C (RFTN1)	XP_016861495.1:n.1135+15915G>C
XM_017006007.2:c.1030+15915G>C (RFTN1)	XP_016861496.1:n.1030+15915G>C
XM_017007489.2:c.*31-15518C>G (OXNAD1)	XP_016862978.1:n.*31-15518C>G
XM_017007491.2:c.*31-30304C>G (OXNAD1)	XP_016862980.1:n.*31-30304C>G
XR_001740365.2:n.1444-15518C>G (OXNAD1)
NM_015150.2:c.1146+3771G>C (RFTN1) MANE Select	NP_055965.1:n.1146+3771G>C