Canonical Allele Identifier: CA91718338

Gene: EVC

Linked Data

• ClinVar Variation Id: 446662
• ClinVar RCV Id: RCV000516149 ; RCV000665849 ; RCV001045278
• dbSNP Id: rs748523193
• gnomAD v2: 4-5731096-C-A
• gnomAD v4: 4-5729369-C-A
• MyVariant Identifiers: chr4:g.5731096C>A (hg19) ; chr4:g.5729369C>A (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5729369C>A , CM000666.2:g.5729369C>A	GRCh38
NC_000004.11:g.5731096C>A , CM000666.1:g.5731096C>A	GRCh37
NC_000004.10:g.5781997C>A	NCBI36
NG_008843.1:g.23173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.363C>A MANE Select	ENSP00000264956.6:p.Tyr121Ter
ENST00000264956.10:c.363C>A	ENSP00000264956.6:p.Tyr121Ter
ENST00000509451.1:c.363C>A	ENSP00000426774.1:p.Tyr121Ter
NM_001306090.1:c.363C>A	NP_001293019.1:p.Tyr121Ter
NM_001306092.1:c.363C>A	NP_001293021.1:p.Tyr121Ter
NM_153717.2:c.363C>A	NP_714928.1:p.Tyr121Ter
XM_006713865.2:c.363C>A	XP_006713928.1:p.Tyr121Ter
XM_006713866.2:c.363C>A	XP_006713929.1:p.Tyr121Ter
XM_011513419.1:c.363C>A	XP_011511721.1:p.Tyr121Ter
XR_427473.2:n.553C>A
XR_427475.2:n.553C>A
XR_427476.2:n.553C>A
XR_924920.1:n.553C>A
XR_924921.1:n.553C>A
XR_924922.1:n.553C>A
XR_924923.1:n.553C>A
XR_924924.1:n.553C>A
XR_924925.1:n.553C>A
XR_924926.1:n.553C>A
XR_924927.1:n.553C>A
XR_924928.1:n.555C>A
XM_006713865.3:c.363C>A	XP_006713928.1:p.Tyr121Ter
XM_006713866.3:c.363C>A	XP_006713929.1:p.Tyr121Ter
XM_011513419.2:c.363C>A	XP_011511721.1:p.Tyr121Ter
XM_017007883.2:c.363C>A	XP_016863372.1:p.Tyr121Ter
XR_001741164.1:n.543C>A
XR_001741165.1:n.543C>A
XR_001741166.1:n.543C>A
XR_001741167.1:n.543C>A
XR_001741168.1:n.543C>A
XR_001741169.2:n.545C>A
XR_001741170.1:n.545C>A
XR_427473.3:n.543C>A
XR_427475.3:n.543C>A
XR_427476.3:n.543C>A
XR_924920.2:n.543C>A
XR_924921.2:n.543C>A
XR_924922.2:n.543C>A
XR_924924.2:n.543C>A
XR_924925.2:n.543C>A
XR_924926.2:n.543C>A
NM_153717.3:c.363C>A MANE Select	NP_714928.1:p.Tyr121Ter
NM_001306090.2:c.363C>A	NP_001293019.1:p.Tyr121Ter
NM_001306092.2:c.363C>A	NP_001293021.1:p.Tyr121Ter