Canonical Allele Identifier: CA356156502

Gene: EVC

Linked Data

• ClinVar Variation Id: 2274562
• ClinVar RCV Id: RCV002813136
• dbSNP Id: rs991390298
• gnomAD v4: 4-5711468-C-A
• MyVariant Identifiers: chr4:g.5713195C>A (hg19) ; chr4:g.5711468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711468C>A , CM000666.2:g.5711468C>A	GRCh38
NC_000004.11:g.5713195C>A , CM000666.1:g.5713195C>A	GRCh37
NC_000004.10:g.5764096C>A	NCBI36
NG_008843.1:g.5272C>A
NG_015821.1:g.3081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.88C>A MANE Select	ENSP00000264956.6:p.Pro30Thr
ENST00000264956.10:c.88C>A	ENSP00000264956.6:p.Pro30Thr
ENST00000509451.1:c.88C>A	ENSP00000426774.1:p.Pro30Thr
NM_001306090.1:c.88C>A	NP_001293019.1:p.Pro30Thr
NM_001306092.1:c.88C>A	NP_001293021.1:p.Pro30Thr
NM_153717.2:c.88C>A	NP_714928.1:p.Pro30Thr
XM_006713865.2:c.88C>A	XP_006713928.1:p.Pro30Thr
XM_006713866.2:c.88C>A	XP_006713929.1:p.Pro30Thr
XM_011513419.1:c.88C>A	XP_011511721.1:p.Pro30Thr
XR_427473.2:n.278C>A
XR_427475.2:n.278C>A
XR_427476.2:n.278C>A
XR_924920.1:n.278C>A
XR_924921.1:n.278C>A
XR_924922.1:n.278C>A
XR_924923.1:n.278C>A
XR_924924.1:n.278C>A
XR_924925.1:n.278C>A
XR_924926.1:n.278C>A
XR_924927.1:n.278C>A
XR_924928.1:n.280C>A
XM_006713865.3:c.88C>A	XP_006713928.1:p.Pro30Thr
XM_006713866.3:c.88C>A	XP_006713929.1:p.Pro30Thr
XM_011513419.2:c.88C>A	XP_011511721.1:p.Pro30Thr
XM_017007883.2:c.88C>A	XP_016863372.1:p.Pro30Thr
XR_001741164.1:n.268C>A
XR_001741165.1:n.268C>A
XR_001741166.1:n.268C>A
XR_001741167.1:n.268C>A
XR_001741168.1:n.268C>A
XR_001741169.2:n.270C>A
XR_001741170.1:n.270C>A
XR_427473.3:n.268C>A
XR_427475.3:n.268C>A
XR_427476.3:n.268C>A
XR_924920.2:n.268C>A
XR_924921.2:n.268C>A
XR_924922.2:n.268C>A
XR_924924.2:n.268C>A
XR_924925.2:n.268C>A
XR_924926.2:n.268C>A
NM_153717.3:c.88C>A MANE Select	NP_714928.1:p.Pro30Thr
NM_001306090.2:c.88C>A	NP_001293019.1:p.Pro30Thr
NM_001306092.2:c.88C>A	NP_001293021.1:p.Pro30Thr