Canonical Allele Identifier: CA2835913

Gene: EVC

Linked Data

• ClinVar Variation Id: 349168
• ClinVar RCV Id: RCV000327158 ; RCV000507948 ; RCV000945501 ; RCV001796743 ; RCV003902349
• dbSNP Id: rs115275195
• ExAC: 4:5747063 G / A
• gnomAD v2: 4-5747063-G-A
• gnomAD v3: 4-5745336-G-A
• gnomAD v4: 4-5745336-G-A
• MyVariant Identifiers: chr4:g.5747063G>A (hg19) ; chr4:g.5745336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5745336G>A , CM000666.2:g.5745336G>A	GRCh38
NC_000004.11:g.5747063G>A , CM000666.1:g.5747063G>A	GRCh37
NC_000004.10:g.5797964G>A	NCBI36
NG_008843.1:g.39140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.934G>A MANE Select	ENSP00000264956.6:p.Asp312Asn
ENST00000264956.10:c.934G>A	ENSP00000264956.6:p.Asp312Asn
ENST00000509451.1:c.934G>A	ENSP00000426774.1:p.Asp312Asn
NM_001306090.1:c.934G>A	NP_001293019.1:p.Asp312Asn
NM_001306092.1:c.934G>A	NP_001293021.1:p.Asp312Asn
NM_153717.2:c.934G>A	NP_714928.1:p.Asp312Asn
XM_006713865.2:c.934G>A	XP_006713928.1:p.Asp312Asn
XM_006713866.2:c.934G>A	XP_006713929.1:p.Asp312Asn
XM_011513419.1:c.934G>A	XP_011511721.1:p.Asp312Asn
XR_427473.2:n.1124G>A
XR_427475.2:n.1124G>A
XR_427476.2:n.1124G>A
XR_924920.1:n.1124G>A
XR_924921.1:n.1124G>A
XR_924922.1:n.1124G>A
XR_924923.1:n.1124G>A
XR_924924.1:n.1124G>A
XR_924925.1:n.1124G>A
XR_924926.1:n.1124G>A
XR_924927.1:n.1124G>A
XR_924928.1:n.1126G>A
XM_006713865.3:c.934G>A	XP_006713928.1:p.Asp312Asn
XM_006713866.3:c.934G>A	XP_006713929.1:p.Asp312Asn
XM_011513419.2:c.934G>A	XP_011511721.1:p.Asp312Asn
XM_017007883.2:c.934G>A	XP_016863372.1:p.Asp312Asn
XR_001741164.1:n.1114G>A
XR_001741165.1:n.1114G>A
XR_001741166.1:n.1114G>A
XR_001741167.1:n.1114G>A
XR_001741168.1:n.1114G>A
XR_001741169.2:n.984-2812G>A
XR_001741170.1:n.1116G>A
XR_001741171.1:n.419G>A
XR_427473.3:n.1114G>A
XR_427475.3:n.1114G>A
XR_427476.3:n.1114G>A
XR_924920.2:n.1114G>A
XR_924921.2:n.1114G>A
XR_924922.2:n.1114G>A
XR_924924.2:n.1114G>A
XR_924925.2:n.1114G>A
XR_924926.2:n.1114G>A
NM_153717.3:c.934G>A MANE Select	NP_714928.1:p.Asp312Asn
NM_001306090.2:c.934G>A	NP_001293019.1:p.Asp312Asn
NM_001306092.2:c.934G>A	NP_001293021.1:p.Asp312Asn