Canonical Allele Identifier: CA356156663
Gene: EVC HGNC NCBI

Linked Data

gnomAD v4: 4-5711522-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711522T>C , CM000666.2:g.5711522T>C GRCh38
NC_000004.11:g.5713249T>C , CM000666.1:g.5713249T>C GRCh37
NC_000004.10:g.5764150T>C NCBI36
NG_008843.1:g.5326T>C
NG_015821.1:g.3027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.142T>C MANE Select ENSP00000264956.6:p.Cys48Arg
ENST00000264956.10:c.142T>C ENSP00000264956.6:p.Cys48Arg
ENST00000509451.1:c.142T>C ENSP00000426774.1:p.Cys48Arg
NM_001306090.1:c.142T>C NP_001293019.1:p.Cys48Arg
NM_001306092.1:c.142T>C NP_001293021.1:p.Cys48Arg
NM_153717.2:c.142T>C NP_714928.1:p.Cys48Arg
XM_006713865.2:c.142T>C XP_006713928.1:p.Cys48Arg
XM_006713866.2:c.142T>C XP_006713929.1:p.Cys48Arg
XM_011513419.1:c.142T>C XP_011511721.1:p.Cys48Arg
XR_427473.2:n.332T>C
XR_427475.2:n.332T>C
XR_427476.2:n.332T>C
XR_924920.1:n.332T>C
XR_924921.1:n.332T>C
XR_924922.1:n.332T>C
XR_924923.1:n.332T>C
XR_924924.1:n.332T>C
XR_924925.1:n.332T>C
XR_924926.1:n.332T>C
XR_924927.1:n.332T>C
XR_924928.1:n.334T>C
XM_006713865.3:c.142T>C XP_006713928.1:p.Cys48Arg
XM_006713866.3:c.142T>C XP_006713929.1:p.Cys48Arg
XM_011513419.2:c.142T>C XP_011511721.1:p.Cys48Arg
XM_017007883.2:c.142T>C XP_016863372.1:p.Cys48Arg
XR_001741164.1:n.322T>C
XR_001741165.1:n.322T>C
XR_001741166.1:n.322T>C
XR_001741167.1:n.322T>C
XR_001741168.1:n.322T>C
XR_001741169.2:n.324T>C
XR_001741170.1:n.324T>C
XR_427473.3:n.322T>C
XR_427475.3:n.322T>C
XR_427476.3:n.322T>C
XR_924920.2:n.322T>C
XR_924921.2:n.322T>C
XR_924922.2:n.322T>C
XR_924924.2:n.322T>C
XR_924925.2:n.322T>C
XR_924926.2:n.322T>C
NM_153717.3:c.142T>C MANE Select NP_714928.1:p.Cys48Arg
NM_001306090.2:c.142T>C NP_001293019.1:p.Cys48Arg
NM_001306092.2:c.142T>C NP_001293021.1:p.Cys48Arg