Canonical Allele Identifier: CA356156775

Gene: EVC

Linked Data

• ClinVar Variation Id: 1458804
• ClinVar RCV Id: RCV001956567
• dbSNP Id: rs2151768710
• MyVariant Identifiers: chr4:g.5713282G>T (hg19) ; chr4:g.5711555G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711555G>T , CM000666.2:g.5711555G>T	GRCh38
NC_000004.11:g.5713282G>T , CM000666.1:g.5713282G>T	GRCh37
NC_000004.10:g.5764183G>T	NCBI36
NG_008843.1:g.5359G>T
NG_015821.1:g.2994C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264956.11:c.174+1G>T MANE Select	ENSP00000264956.6:n.174+1G>T
ENST00000264956.10:c.174+1G>T	ENSP00000264956.6:n.174+1G>T
ENST00000509451.1:c.174+1G>T	ENSP00000426774.1:n.174+1G>T
NM_001306090.1:c.174+1G>T	NP_001293019.1:n.174+1G>T
NM_001306092.1:c.174+1G>T	NP_001293021.1:n.174+1G>T
NM_153717.2:c.174+1G>T	NP_714928.1:n.174+1G>T
XM_006713865.2:c.174+1G>T	XP_006713928.1:n.174+1G>T
XM_006713866.2:c.174+1G>T	XP_006713929.1:n.174+1G>T
XM_011513419.1:c.174+1G>T	XP_011511721.1:n.174+1G>T
XR_427473.2:n.364+1G>T
XR_427475.2:n.364+1G>T
XR_427476.2:n.364+1G>T
XR_924920.1:n.364+1G>T
XR_924921.1:n.364+1G>T
XR_924922.1:n.364+1G>T
XR_924923.1:n.364+1G>T
XR_924924.1:n.364+1G>T
XR_924925.1:n.364+1G>T
XR_924926.1:n.364+1G>T
XR_924927.1:n.364+1G>T
XR_924928.1:n.366+1G>T
XM_006713865.3:c.174+1G>T	XP_006713928.1:n.174+1G>T
XM_006713866.3:c.174+1G>T	XP_006713929.1:n.174+1G>T
XM_011513419.2:c.174+1G>T	XP_011511721.1:n.174+1G>T
XM_017007883.2:c.174+1G>T	XP_016863372.1:n.174+1G>T
XR_001741164.1:n.354+1G>T
XR_001741165.1:n.354+1G>T
XR_001741166.1:n.354+1G>T
XR_001741167.1:n.354+1G>T
XR_001741168.1:n.354+1G>T
XR_001741169.2:n.356+1G>T
XR_001741170.1:n.356+1G>T
XR_427473.3:n.354+1G>T
XR_427475.3:n.354+1G>T
XR_427476.3:n.354+1G>T
XR_924920.2:n.354+1G>T
XR_924921.2:n.354+1G>T
XR_924922.2:n.354+1G>T
XR_924924.2:n.354+1G>T
XR_924925.2:n.354+1G>T
XR_924926.2:n.354+1G>T
NM_153717.3:c.174+1G>T MANE Select	NP_714928.1:n.174+1G>T
NM_001306090.2:c.174+1G>T	NP_001293019.1:n.174+1G>T
NM_001306092.2:c.174+1G>T	NP_001293021.1:n.174+1G>T