Canonical Allele Identifier: CA2836505

Linked Data

ClinVar Variation Id: 349205
dbSNP Id: rs751678723
gnomAD v2: 4-5803833-C-G
gnomAD v3: 4-5802106-C-G
gnomAD v4: 4-5802106-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5802106C>G , CM000666.2:g.5802106C>G GRCh38
NC_000004.11:g.5803833C>G , CM000666.1:g.5803833C>G GRCh37
NC_000004.10:g.5854734C>G NCBI36
NG_008843.1:g.95910C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264956.11:c.2449+12C>G (EVC) MANE Select ENSP00000264956.6:n.2449+12C>G
ENST00000264956.10:c.2449+12C>G (EVC) ENSP00000264956.6:n.2449+12C>G
ENST00000506216.5:n.1647+23388G>C (CRMP1)
NM_001306090.1:c.2449+12C>G (EVC) NP_001293019.1:n.2449+12C>G
NM_153717.2:c.2449+12C>G (EVC) NP_714928.1:n.2449+12C>G
XM_006713865.2:c.2449+12C>G (EVC) XP_006713928.1:n.2449+12C>G
XM_006713866.2:c.2449+12C>G (EVC) XP_006713929.1:n.2449+12C>G
XR_427473.2:n.2639+12C>G (EVC)
XR_427475.2:n.2639+12C>G (EVC)
XR_427476.2:n.2639+12C>G (EVC)
XR_924920.1:n.2639+12C>G (EVC)
XR_924921.1:n.2639+12C>G (EVC)
XR_924922.1:n.2639+12C>G (EVC)
XR_924923.1:n.2639+12C>G (EVC)
XR_924924.1:n.2639+12C>G (EVC)
XR_924925.1:n.2639+12C>G (EVC)
XR_924926.1:n.2639+12C>G (EVC)
XR_924927.1:n.2639+12C>G (EVC)
XM_006713865.3:c.2449+12C>G (EVC) XP_006713928.1:n.2449+12C>G
XM_006713866.3:c.2449+12C>G (EVC) XP_006713929.1:n.2449+12C>G
XR_001741164.1:n.2629+12C>G (EVC)
XR_001741165.1:n.2629+12C>G (EVC)
XR_001741166.1:n.2629+12C>G (EVC)
XR_001741167.1:n.2629+12C>G (EVC)
XR_001741168.1:n.2629+12C>G (EVC)
XR_001741169.2:n.2493+12C>G (EVC)
XR_001741170.1:n.2714+12C>G (EVC)
XR_001741171.1:n.1934+12C>G (EVC)
XR_427473.3:n.2629+12C>G (EVC)
XR_427475.3:n.2629+12C>G (EVC)
XR_427476.3:n.2629+12C>G (EVC)
XR_924920.2:n.2629+12C>G (EVC)
XR_924921.2:n.2629+12C>G (EVC)
XR_924922.2:n.2629+12C>G (EVC)
XR_924924.2:n.2629+12C>G (EVC)
XR_924925.2:n.2629+12C>G (EVC)
XR_924926.2:n.2629+12C>G (EVC)
NM_153717.3:c.2449+12C>G (EVC) MANE Select NP_714928.1:n.2449+12C>G
NM_001306090.2:c.2449+12C>G (EVC) NP_001293019.1:n.2449+12C>G