Canonical Allele Identifier: CA91720320

Gene: EVC

Linked Data

• ClinVar Variation Id: 456000
• ClinVar RCV Id: RCV000548054 ; RCV000673804
• dbSNP Id: rs1017946059
• gnomAD v2: 4-5733384-G-A
• gnomAD v3: 4-5731657-G-A
• gnomAD v4: 4-5731657-G-A
• MyVariant Identifiers: chr4:g.5733384G>A (hg19) ; chr4:g.5731657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5731657G>A , CM000666.2:g.5731657G>A	GRCh38
NC_000004.11:g.5733384G>A , CM000666.1:g.5733384G>A	GRCh37
NC_000004.10:g.5784285G>A	NCBI36
NG_008843.1:g.25461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.617G>A MANE Select	ENSP00000264956.6:p.Ser206Asn
ENST00000264956.10:c.617G>A	ENSP00000264956.6:p.Ser206Asn
ENST00000509451.1:c.617G>A	ENSP00000426774.1:p.Ser206Asn
NM_001306090.1:c.617G>A	NP_001293019.1:p.Ser206Asn
NM_001306092.1:c.617G>A	NP_001293021.1:p.Ser206Asn
NM_153717.2:c.617G>A	NP_714928.1:p.Ser206Asn
XM_006713865.2:c.617G>A	XP_006713928.1:p.Ser206Asn
XM_006713866.2:c.617G>A	XP_006713929.1:p.Ser206Asn
XM_011513419.1:c.617G>A	XP_011511721.1:p.Ser206Asn
XR_427473.2:n.807G>A
XR_427475.2:n.807G>A
XR_427476.2:n.807G>A
XR_924920.1:n.807G>A
XR_924921.1:n.807G>A
XR_924922.1:n.807G>A
XR_924923.1:n.807G>A
XR_924924.1:n.807G>A
XR_924925.1:n.807G>A
XR_924926.1:n.807G>A
XR_924927.1:n.807G>A
XR_924928.1:n.809G>A
XM_006713865.3:c.617G>A	XP_006713928.1:p.Ser206Asn
XM_006713866.3:c.617G>A	XP_006713929.1:p.Ser206Asn
XM_011513419.2:c.617G>A	XP_011511721.1:p.Ser206Asn
XM_017007883.2:c.617G>A	XP_016863372.1:p.Ser206Asn
XR_001741164.1:n.797G>A
XR_001741165.1:n.797G>A
XR_001741166.1:n.797G>A
XR_001741167.1:n.797G>A
XR_001741168.1:n.797G>A
XR_001741169.2:n.799G>A
XR_001741170.1:n.799G>A
XR_427473.3:n.797G>A
XR_427475.3:n.797G>A
XR_427476.3:n.797G>A
XR_924920.2:n.797G>A
XR_924921.2:n.797G>A
XR_924922.2:n.797G>A
XR_924924.2:n.797G>A
XR_924925.2:n.797G>A
XR_924926.2:n.797G>A
NM_153717.3:c.617G>A MANE Select	NP_714928.1:p.Ser206Asn
NM_001306090.2:c.617G>A	NP_001293019.1:p.Ser206Asn
NM_001306092.2:c.617G>A	NP_001293021.1:p.Ser206Asn