Canonical Allele Identifier: CA356150393

Gene: EVC CRMP1

Linked Data

• dbSNP Id: rs1716306134
• gnomAD v4: 4-5808213-G-T
• MyVariant Identifiers: chr4:g.5809940G>T (hg19) ; chr4:g.5808213G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5808213G>T , CM000666.2:g.5808213G>T	GRCh38
NC_000004.11:g.5809940G>T , CM000666.1:g.5809940G>T	GRCh37
NC_000004.10:g.5860841G>T	NCBI36
NG_008843.1:g.102017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.2574G>T (EVC) MANE Select	ENSP00000264956.6:p.Gln858His
ENST00000264956.10:c.2574G>T (EVC)	ENSP00000264956.6:p.Gln858His
ENST00000506216.5:n.1647+17281C>A (CRMP1)
NM_001306090.1:c.2574G>T (EVC)	NP_001293019.1:p.Gln858His
NM_153717.2:c.2574G>T (EVC)	NP_714928.1:p.Gln858His
XM_006713865.2:c.2574G>T (EVC)	XP_006713928.1:p.Gln858His
XM_006713866.2:c.2574G>T (EVC)	XP_006713929.1:p.Gln858His
XR_427473.2:n.2764G>T (EVC)
XR_427475.2:n.2764G>T (EVC)
XR_427476.2:n.2764G>T (EVC)
XR_924920.1:n.2764G>T (EVC)
XR_924921.1:n.2764G>T (EVC)
XR_924922.1:n.2764G>T (EVC)
XR_924923.1:n.2764G>T (EVC)
XR_924924.1:n.2764G>T (EVC)
XR_924925.1:n.2764G>T (EVC)
XR_924926.1:n.2764G>T (EVC)
XR_924927.1:n.2764G>T (EVC)
XM_006713865.3:c.2574G>T (EVC)	XP_006713928.1:p.Gln858His
XM_006713866.3:c.2574G>T (EVC)	XP_006713929.1:p.Gln858His
XR_001741164.1:n.2754G>T (EVC)
XR_001741165.1:n.2754G>T (EVC)
XR_001741166.1:n.2754G>T (EVC)
XR_001741167.1:n.2754G>T (EVC)
XR_001741168.1:n.2754G>T (EVC)
XR_001741169.2:n.2618G>T (EVC)
XR_001741170.1:n.2839G>T (EVC)
XR_001741171.1:n.2059G>T (EVC)
XR_427473.3:n.2754G>T (EVC)
XR_427475.3:n.2754G>T (EVC)
XR_427476.3:n.2754G>T (EVC)
XR_924920.2:n.2754G>T (EVC)
XR_924921.2:n.2754G>T (EVC)
XR_924922.2:n.2754G>T (EVC)
XR_924924.2:n.2754G>T (EVC)
XR_924925.2:n.2754G>T (EVC)
XR_924926.2:n.2754G>T (EVC)
NM_153717.3:c.2574G>T (EVC) MANE Select	NP_714928.1:p.Gln858His
NM_001306090.2:c.2574G>T (EVC)	NP_001293019.1:p.Gln858His