Canonical Allele Identifier: CA91724321

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 1205425
• ClinVar RCV Id: RCV001572084
• dbSNP Id: rs76663613
• gnomAD v2: 4-5810355-C-G
• gnomAD v3: 4-5808628-C-G
• gnomAD v4: 4-5808628-C-G
• MyVariant Identifiers: chr4:g.5810355C>G (hg19) ; chr4:g.5808628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5808628C>G , CM000666.2:g.5808628C>G	GRCh38
NC_000004.11:g.5810355C>G , CM000666.1:g.5810355C>G	GRCh37
NC_000004.10:g.5861256C>G	NCBI36
NG_008843.1:g.102432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.2688+301C>G (EVC) MANE Select	ENSP00000264956.6:n.2688+301C>G
ENST00000264956.10:c.2688+301C>G (EVC)	ENSP00000264956.6:n.2688+301C>G
ENST00000506216.5:n.1647+16866G>C (CRMP1)
NM_001306090.1:c.2688+301C>G (EVC)	NP_001293019.1:n.2688+301C>G
NM_153717.2:c.2688+301C>G (EVC)	NP_714928.1:n.2688+301C>G
XM_006713865.2:c.2688+301C>G (EVC)	XP_006713928.1:n.2688+301C>G
XM_006713866.2:c.2688+301C>G (EVC)	XP_006713929.1:n.2688+301C>G
XR_427473.2:n.2878+301C>G (EVC)
XR_427475.2:n.2878+301C>G (EVC)
XR_427476.2:n.2878+301C>G (EVC)
XR_924920.1:n.2878+301C>G (EVC)
XR_924921.1:n.2878+301C>G (EVC)
XR_924922.1:n.2878+301C>G (EVC)
XR_924923.1:n.2878+301C>G (EVC)
XR_924924.1:n.2878+301C>G (EVC)
XR_924925.1:n.2878+301C>G (EVC)
XR_924926.1:n.2878+301C>G (EVC)
XR_924927.1:n.2878+301C>G (EVC)
XM_006713865.3:c.2688+301C>G (EVC)	XP_006713928.1:n.2688+301C>G
XM_006713866.3:c.2688+301C>G (EVC)	XP_006713929.1:n.2688+301C>G
XR_001741164.1:n.2868+301C>G (EVC)
XR_001741165.1:n.2868+301C>G (EVC)
XR_001741166.1:n.2868+301C>G (EVC)
XR_001741167.1:n.2868+301C>G (EVC)
XR_001741168.1:n.2868+301C>G (EVC)
XR_001741169.2:n.2732+301C>G (EVC)
XR_001741170.1:n.2953+301C>G (EVC)
XR_001741171.1:n.2173+301C>G (EVC)
XR_427473.3:n.2868+301C>G (EVC)
XR_427475.3:n.2868+301C>G (EVC)
XR_427476.3:n.2868+301C>G (EVC)
XR_924920.2:n.2868+301C>G (EVC)
XR_924921.2:n.2868+301C>G (EVC)
XR_924922.2:n.2868+301C>G (EVC)
XR_924924.2:n.2868+301C>G (EVC)
XR_924925.2:n.2868+301C>G (EVC)
XR_924926.2:n.2868+301C>G (EVC)
NM_153717.3:c.2688+301C>G (EVC) MANE Select	NP_714928.1:n.2688+301C>G
NM_001306090.2:c.2688+301C>G (EVC)	NP_001293019.1:n.2688+301C>G