Canonical Allele Identifier: CA91734974
Gene: EVC HGNC NCBI

Linked Data

ClinVar Variation Id: 2197559
dbSNP Id: rs932851648
gnomAD v2: 4-5713261-C-T
gnomAD v3: 4-5711534-C-T
gnomAD v4: 4-5711534-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711534C>T , CM000666.2:g.5711534C>T GRCh38
NC_000004.11:g.5713261C>T , CM000666.1:g.5713261C>T GRCh37
NC_000004.10:g.5764162C>T NCBI36
NG_008843.1:g.5338C>T
NG_015821.1:g.3015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.154C>T MANE Select ENSP00000264956.6:p.Arg52Cys
ENST00000264956.10:c.154C>T ENSP00000264956.6:p.Arg52Cys
ENST00000509451.1:c.154C>T ENSP00000426774.1:p.Arg52Cys
NM_001306090.1:c.154C>T NP_001293019.1:p.Arg52Cys
NM_001306092.1:c.154C>T NP_001293021.1:p.Arg52Cys
NM_153717.2:c.154C>T NP_714928.1:p.Arg52Cys
XM_006713865.2:c.154C>T XP_006713928.1:p.Arg52Cys
XM_006713866.2:c.154C>T XP_006713929.1:p.Arg52Cys
XM_011513419.1:c.154C>T XP_011511721.1:p.Arg52Cys
XR_427473.2:n.344C>T
XR_427475.2:n.344C>T
XR_427476.2:n.344C>T
XR_924920.1:n.344C>T
XR_924921.1:n.344C>T
XR_924922.1:n.344C>T
XR_924923.1:n.344C>T
XR_924924.1:n.344C>T
XR_924925.1:n.344C>T
XR_924926.1:n.344C>T
XR_924927.1:n.344C>T
XR_924928.1:n.346C>T
XM_006713865.3:c.154C>T XP_006713928.1:p.Arg52Cys
XM_006713866.3:c.154C>T XP_006713929.1:p.Arg52Cys
XM_011513419.2:c.154C>T XP_011511721.1:p.Arg52Cys
XM_017007883.2:c.154C>T XP_016863372.1:p.Arg52Cys
XR_001741164.1:n.334C>T
XR_001741165.1:n.334C>T
XR_001741166.1:n.334C>T
XR_001741167.1:n.334C>T
XR_001741168.1:n.334C>T
XR_001741169.2:n.336C>T
XR_001741170.1:n.336C>T
XR_427473.3:n.334C>T
XR_427475.3:n.334C>T
XR_427476.3:n.334C>T
XR_924920.2:n.334C>T
XR_924921.2:n.334C>T
XR_924922.2:n.334C>T
XR_924924.2:n.334C>T
XR_924925.2:n.334C>T
XR_924926.2:n.334C>T
NM_153717.3:c.154C>T MANE Select NP_714928.1:p.Arg52Cys
NM_001306090.2:c.154C>T NP_001293019.1:p.Arg52Cys
NM_001306092.2:c.154C>T NP_001293021.1:p.Arg52Cys