Canonical Allele Identifier: CA117414

Linked Data

ClinVar Variation Id: 5339
dbSNP Id: rs121908424
gnomAD v2: 4-5810001-C-T
gnomAD v3: 4-5808274-C-T
gnomAD v4: 4-5808274-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808274C>T , CM000666.2:g.5808274C>T GRCh38
NC_000004.11:g.5810001C>T , CM000666.1:g.5810001C>T GRCh37
NC_000004.10:g.5860902C>T NCBI36
NG_008843.1:g.102078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2635C>T (EVC) MANE Select ENSP00000264956.6:p.Gln879Ter
ENST00000264956.10:c.2635C>T (EVC) ENSP00000264956.6:p.Gln879Ter
ENST00000506216.5:n.1647+17220G>A (CRMP1)
NM_001306090.1:c.2635C>T (EVC) NP_001293019.1:p.Gln879Ter
NM_153717.2:c.2635C>T (EVC) NP_714928.1:p.Gln879Ter
XM_006713865.2:c.2635C>T (EVC) XP_006713928.1:p.Gln879Ter
XM_006713866.2:c.2635C>T (EVC) XP_006713929.1:p.Gln879Ter
XR_427473.2:n.2825C>T (EVC)
XR_427475.2:n.2825C>T (EVC)
XR_427476.2:n.2825C>T (EVC)
XR_924920.1:n.2825C>T (EVC)
XR_924921.1:n.2825C>T (EVC)
XR_924922.1:n.2825C>T (EVC)
XR_924923.1:n.2825C>T (EVC)
XR_924924.1:n.2825C>T (EVC)
XR_924925.1:n.2825C>T (EVC)
XR_924926.1:n.2825C>T (EVC)
XR_924927.1:n.2825C>T (EVC)
XM_006713865.3:c.2635C>T (EVC) XP_006713928.1:p.Gln879Ter
XM_006713866.3:c.2635C>T (EVC) XP_006713929.1:p.Gln879Ter
XR_001741164.1:n.2815C>T (EVC)
XR_001741165.1:n.2815C>T (EVC)
XR_001741166.1:n.2815C>T (EVC)
XR_001741167.1:n.2815C>T (EVC)
XR_001741168.1:n.2815C>T (EVC)
XR_001741169.2:n.2679C>T (EVC)
XR_001741170.1:n.2900C>T (EVC)
XR_001741171.1:n.2120C>T (EVC)
XR_427473.3:n.2815C>T (EVC)
XR_427475.3:n.2815C>T (EVC)
XR_427476.3:n.2815C>T (EVC)
XR_924920.2:n.2815C>T (EVC)
XR_924921.2:n.2815C>T (EVC)
XR_924922.2:n.2815C>T (EVC)
XR_924924.2:n.2815C>T (EVC)
XR_924925.2:n.2815C>T (EVC)
XR_924926.2:n.2815C>T (EVC)
NM_153717.3:c.2635C>T (EVC) MANE Select NP_714928.1:p.Gln879Ter
NM_001306090.2:c.2635C>T (EVC) NP_001293019.1:p.Gln879Ter