Canonical Allele Identifier: CA203346

Gene: EVC

Linked Data

• ClinVar Variation Id: 198282
• ClinVar RCV Id: RCV000179558 ; RCV000297646 ; RCV001515066 ; RCV001706149
• dbSNP Id: rs6414624
• ExAC: 4:5743512 T / C
• gnomAD v2: 4-5743512-T-C
• gnomAD v3: 4-5741785-T-C
• gnomAD v4: 4-5741785-T-C
• MyVariant Identifiers: chr4:g.5743512T>C (hg19) ; chr4:g.5741785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5741785T>C , CM000666.2:g.5741785T>C	GRCh38
NC_000004.11:g.5743512T>C , CM000666.1:g.5743512T>C	GRCh37
NC_000004.10:g.5794413T>C	NCBI36
NG_008843.1:g.35589T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264956.11:c.772T>C MANE Select	ENSP00000264956.6:p.Tyr258His
ENST00000264956.10:c.772T>C	ENSP00000264956.6:p.Tyr258His
ENST00000509451.1:c.772T>C	ENSP00000426774.1:p.Tyr258His
NM_001306090.1:c.772T>C	NP_001293019.1:p.Tyr258His
NM_001306092.1:c.772T>C	NP_001293021.1:p.Tyr258His
NM_153717.2:c.772T>C	NP_714928.1:p.Tyr258His
XM_006713865.2:c.772T>C	XP_006713928.1:p.Tyr258His
XM_006713866.2:c.772T>C	XP_006713929.1:p.Tyr258His
XM_011513419.1:c.772T>C	XP_011511721.1:p.Tyr258His
XR_427473.2:n.962T>C
XR_427475.2:n.962T>C
XR_427476.2:n.962T>C
XR_924920.1:n.962T>C
XR_924921.1:n.962T>C
XR_924922.1:n.962T>C
XR_924923.1:n.962T>C
XR_924924.1:n.962T>C
XR_924925.1:n.962T>C
XR_924926.1:n.962T>C
XR_924927.1:n.962T>C
XR_924928.1:n.964T>C
XM_006713865.3:c.772T>C	XP_006713928.1:p.Tyr258His
XM_006713866.3:c.772T>C	XP_006713929.1:p.Tyr258His
XM_011513419.2:c.772T>C	XP_011511721.1:p.Tyr258His
XM_017007883.2:c.772T>C	XP_016863372.1:p.Tyr258His
XR_001741164.1:n.952T>C
XR_001741165.1:n.952T>C
XR_001741166.1:n.952T>C
XR_001741167.1:n.952T>C
XR_001741168.1:n.952T>C
XR_001741169.2:n.954T>C
XR_001741170.1:n.954T>C
XR_427473.3:n.952T>C
XR_427475.3:n.952T>C
XR_427476.3:n.952T>C
XR_924920.2:n.952T>C
XR_924921.2:n.952T>C
XR_924922.2:n.952T>C
XR_924924.2:n.952T>C
XR_924925.2:n.952T>C
XR_924926.2:n.952T>C
NM_153717.3:c.772T>C MANE Select	NP_714928.1:p.Tyr258His
NM_001306090.2:c.772T>C	NP_001293019.1:p.Tyr258His
NM_001306092.2:c.772T>C	NP_001293021.1:p.Tyr258His