Canonical Allele Identifier: CA2835702
Gene: EVC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5731482T>C
GRCh37 chr4:g.5733209T>C
gnomAD v2:
4:5733209 T / C
gnomAD v3:
4:5731482 T / C
gnomAD v4:
chr4-5731482-T-C
Joint Max Group AF 0.00044489 (AMR)
Genomes Max Group AF 0.00028 (NFE)
Exomes Max Group AF 0.00052088 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5731482T>C , CM000666.2:g.5731482T>C GRCh38
NC_000004.11:g.5733209T>C , CM000666.1:g.5733209T>C GRCh37
NC_000004.10:g.5784110T>C NCBI36
NG_008843.1:g.25286T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.442T>C MANE Select ENSP00000264956.6:p.Leu148=
ENST00000264956.10:c.442T>C ENSP00000264956.6:p.Leu148=
ENST00000509451.1:c.442T>C ENSP00000426774.1:p.Leu148=
NM_001306090.1:c.442T>C NP_001293019.1:p.Leu148=
NM_001306092.1:c.442T>C NP_001293021.1:p.Leu148=
NM_153717.2:c.442T>C NP_714928.1:p.Leu148=
XM_006713865.2:c.442T>C XP_006713928.1:p.Leu148=
XM_006713866.2:c.442T>C XP_006713929.1:p.Leu148=
XM_011513419.1:c.442T>C XP_011511721.1:p.Leu148=
XR_427473.2:n.632T>C
XR_427475.2:n.632T>C
XR_427476.2:n.632T>C
XR_924920.1:n.632T>C
XR_924921.1:n.632T>C
XR_924922.1:n.632T>C
XR_924923.1:n.632T>C
XR_924924.1:n.632T>C
XR_924925.1:n.632T>C
XR_924926.1:n.632T>C
XR_924927.1:n.632T>C
XR_924928.1:n.634T>C
XM_006713865.3:c.442T>C XP_006713928.1:p.Leu148=
XM_006713866.3:c.442T>C XP_006713929.1:p.Leu148=
XM_011513419.2:c.442T>C XP_011511721.1:p.Leu148=
XM_017007883.2:c.442T>C XP_016863372.1:p.Leu148=
XR_001741164.1:n.622T>C
XR_001741165.1:n.622T>C
XR_001741166.1:n.622T>C
XR_001741167.1:n.622T>C
XR_001741168.1:n.622T>C
XR_001741169.2:n.624T>C
XR_001741170.1:n.624T>C
XR_427473.3:n.622T>C
XR_427475.3:n.622T>C
XR_427476.3:n.622T>C
XR_924920.2:n.622T>C
XR_924921.2:n.622T>C
XR_924922.2:n.622T>C
XR_924924.2:n.622T>C
XR_924925.2:n.622T>C
XR_924926.2:n.622T>C
NM_153717.3:c.442T>C MANE Select NP_714928.1:p.Leu148=
NM_001306090.2:c.442T>C NP_001293019.1:p.Leu148=
NM_001306092.2:c.442T>C NP_001293021.1:p.Leu148=
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