Canonical Allele Identifier: CA11617225
Gene: RFTN1 HGNC NCBI
OXNAD1 HGNC NCBI

Linked Data

dbSNP Id: rs12635698
gnomAD v2: 3-16408489-T-C
gnomAD v3: 3-16366982-T-C
gnomAD v4: 3-16366982-T-C
MyVariant Identifiers: chr3:g.16408489T>C (hg19) chr3:g.16366982T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.16366982T>C , CM000665.2:g.16366982T>C GRCh38
NC_000003.11:g.16408489T>C , CM000665.1:g.16408489T>C GRCh37
NC_000003.10:g.16383493T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000334133.9:c.1030+3094A>G (RFTN1) MANE Select ENSP00000334153.4:n.1030+3094A>G
ENST00000334133.8:c.1030+3094A>G (RFTN1) ENSP00000334153.4:n.1030+3094A>G
ENST00000432519.5:c.922+3094A>G (RFTN1) ENSP00000403926.1:n.922+3094A>G
ENST00000483671.1:n.309+3094A>G (RFTN1)
NM_015150.1:c.1030+3094A>G (RFTN1) NP_055965.1:n.1030+3094A>G
XM_005264985.1:c.1030+3094A>G (RFTN1) XP_005265042.1:n.1030+3094A>G
XM_005264986.1:c.1030+3094A>G (RFTN1) XP_005265043.1:n.1030+3094A>G
XM_005264987.2:c.940+3094A>G (RFTN1) XP_005265044.1:n.940+3094A>G
XM_006713069.1:c.1030+3094A>G (RFTN1) XP_006713132.1:n.1030+3094A>G
XM_011533529.1:c.1135+3094A>G (RFTN1) XP_011531831.1:n.1135+3094A>G
XM_011533530.1:c.1030+3094A>G (RFTN1) XP_011531832.1:n.1030+3094A>G
XM_011533531.1:c.1135+3094A>G (RFTN1) XP_011531833.1:n.1135+3094A>G
XM_011534234.1:c.*31-17483T>C (OXNAD1) XP_011532536.1:n.*31-17483T>C
XM_005264986.2:c.1030+3094A>G (RFTN1) XP_005265043.1:n.1030+3094A>G
XM_011534234.3:c.*31-17483T>C (OXNAD1) XP_011532536.1:n.*31-17483T>C
XM_017006005.1:c.1135+3094A>G (RFTN1) XP_016861494.1:n.1135+3094A>G
XM_017006006.2:c.1135+3094A>G (RFTN1) XP_016861495.1:n.1135+3094A>G
XM_017006007.2:c.1030+3094A>G (RFTN1) XP_016861496.1:n.1030+3094A>G
XM_017007489.2:c.*31-2697T>C (OXNAD1) XP_016862978.1:n.*31-2697T>C
XM_017007491.2:c.*31-17483T>C (OXNAD1) XP_016862980.1:n.*31-17483T>C
XR_001740365.2:n.1444-2697T>C (OXNAD1)
NM_015150.2:c.1030+3094A>G (RFTN1) MANE Select NP_055965.1:n.1030+3094A>G
Search 100 bp 5'
Search 100 bp 3'