Canonical Allele Identifier: CA356156295

Gene: EVC

Linked Data

• ClinVar Variation Id: 1442742
• ClinVar RCV Id: RCV001953142
• dbSNP Id: rs1369066723
• gnomAD v4: 4-5711414-G-C
• MyVariant Identifiers: chr4:g.5713141G>C (hg19) ; chr4:g.5711414G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711414G>C , CM000666.2:g.5711414G>C	GRCh38
NC_000004.11:g.5713141G>C , CM000666.1:g.5713141G>C	GRCh37
NC_000004.10:g.5764042G>C	NCBI36
NG_008843.1:g.5218G>C
NG_015821.1:g.3135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.34G>C MANE Select	ENSP00000264956.6:p.Ala12Pro
ENST00000264956.10:c.34G>C	ENSP00000264956.6:p.Ala12Pro
ENST00000509451.1:c.34G>C	ENSP00000426774.1:p.Ala12Pro
NM_001306090.1:c.34G>C	NP_001293019.1:p.Ala12Pro
NM_001306092.1:c.34G>C	NP_001293021.1:p.Ala12Pro
NM_153717.2:c.34G>C	NP_714928.1:p.Ala12Pro
XM_006713865.2:c.34G>C	XP_006713928.1:p.Ala12Pro
XM_006713866.2:c.34G>C	XP_006713929.1:p.Ala12Pro
XM_011513419.1:c.34G>C	XP_011511721.1:p.Ala12Pro
XR_427473.2:n.224G>C
XR_427475.2:n.224G>C
XR_427476.2:n.224G>C
XR_924920.1:n.224G>C
XR_924921.1:n.224G>C
XR_924922.1:n.224G>C
XR_924923.1:n.224G>C
XR_924924.1:n.224G>C
XR_924925.1:n.224G>C
XR_924926.1:n.224G>C
XR_924927.1:n.224G>C
XR_924928.1:n.226G>C
XM_006713865.3:c.34G>C	XP_006713928.1:p.Ala12Pro
XM_006713866.3:c.34G>C	XP_006713929.1:p.Ala12Pro
XM_011513419.2:c.34G>C	XP_011511721.1:p.Ala12Pro
XM_017007883.2:c.34G>C	XP_016863372.1:p.Ala12Pro
XR_001741164.1:n.214G>C
XR_001741165.1:n.214G>C
XR_001741166.1:n.214G>C
XR_001741167.1:n.214G>C
XR_001741168.1:n.214G>C
XR_001741169.2:n.216G>C
XR_001741170.1:n.216G>C
XR_427473.3:n.214G>C
XR_427475.3:n.214G>C
XR_427476.3:n.214G>C
XR_924920.2:n.214G>C
XR_924921.2:n.214G>C
XR_924922.2:n.214G>C
XR_924924.2:n.214G>C
XR_924925.2:n.214G>C
XR_924926.2:n.214G>C
NM_153717.3:c.34G>C MANE Select	NP_714928.1:p.Ala12Pro
NM_001306090.2:c.34G>C	NP_001293019.1:p.Ala12Pro
NM_001306092.2:c.34G>C	NP_001293021.1:p.Ala12Pro