Canonical Allele Identifier: CA16042563
Gene: EVC HGNC NCBI

Linked Data

ClinVar Variation Id: 372638
ClinVar RCV Id: RCV000413234
dbSNP Id: rs1057517899
gnomAD v4: 4-5711552-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711552C>T , CM000666.2:g.5711552C>T GRCh38
NC_000004.11:g.5713279C>T , CM000666.1:g.5713279C>T GRCh37
NC_000004.10:g.5764180C>T NCBI36
NG_008843.1:g.5356C>T
NG_015821.1:g.2997G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264956.11:c.172C>T MANE Select ENSP00000264956.6:p.Gln58Ter
ENST00000264956.10:c.172C>T ENSP00000264956.6:p.Gln58Ter
ENST00000509451.1:c.172C>T ENSP00000426774.1:p.Gln58Ter
NM_001306090.1:c.172C>T NP_001293019.1:p.Gln58Ter
NM_001306092.1:c.172C>T NP_001293021.1:p.Gln58Ter
NM_153717.2:c.172C>T NP_714928.1:p.Gln58Ter
XM_006713865.2:c.172C>T XP_006713928.1:p.Gln58Ter
XM_006713866.2:c.172C>T XP_006713929.1:p.Gln58Ter
XM_011513419.1:c.172C>T XP_011511721.1:p.Gln58Ter
XR_427473.2:n.362C>T
XR_427475.2:n.362C>T
XR_427476.2:n.362C>T
XR_924920.1:n.362C>T
XR_924921.1:n.362C>T
XR_924922.1:n.362C>T
XR_924923.1:n.362C>T
XR_924924.1:n.362C>T
XR_924925.1:n.362C>T
XR_924926.1:n.362C>T
XR_924927.1:n.362C>T
XR_924928.1:n.364C>T
XM_006713865.3:c.172C>T XP_006713928.1:p.Gln58Ter
XM_006713866.3:c.172C>T XP_006713929.1:p.Gln58Ter
XM_011513419.2:c.172C>T XP_011511721.1:p.Gln58Ter
XM_017007883.2:c.172C>T XP_016863372.1:p.Gln58Ter
XR_001741164.1:n.352C>T
XR_001741165.1:n.352C>T
XR_001741166.1:n.352C>T
XR_001741167.1:n.352C>T
XR_001741168.1:n.352C>T
XR_001741169.2:n.354C>T
XR_001741170.1:n.354C>T
XR_427473.3:n.352C>T
XR_427475.3:n.352C>T
XR_427476.3:n.352C>T
XR_924920.2:n.352C>T
XR_924921.2:n.352C>T
XR_924922.2:n.352C>T
XR_924924.2:n.352C>T
XR_924925.2:n.352C>T
XR_924926.2:n.352C>T
NM_153717.3:c.172C>T MANE Select NP_714928.1:p.Gln58Ter
NM_001306090.2:c.172C>T NP_001293019.1:p.Gln58Ter
NM_001306092.2:c.172C>T NP_001293021.1:p.Gln58Ter