Canonical Allele Identifier: CA915944122

Gene: EVC

Linked Data

• ClinVar Variation Id: 798010
• ClinVar RCV Id: RCV000981504
• dbSNP Id: rs1577297959
• gnomAD v3: 4-5711561-C-T
• gnomAD v4: 4-5711561-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711561C>T , CM000666.2:g.5711561C>T	GRCh38
NC_000004.11:g.5713288C>T , CM000666.1:g.5713288C>T	GRCh37
NC_000004.10:g.5764189C>T	NCBI36
NG_008843.1:g.5365C>T
NG_015821.1:g.2988G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264956.11:c.174+7C>T MANE Select	ENSP00000264956.6:n.174+7C>T
ENST00000264956.10:c.174+7C>T	ENSP00000264956.6:n.174+7C>T
ENST00000509451.1:c.174+7C>T	ENSP00000426774.1:n.174+7C>T
NM_001306090.1:c.174+7C>T	NP_001293019.1:n.174+7C>T
NM_001306092.1:c.174+7C>T	NP_001293021.1:n.174+7C>T
NM_153717.2:c.174+7C>T	NP_714928.1:n.174+7C>T
XM_006713865.2:c.174+7C>T	XP_006713928.1:n.174+7C>T
XM_006713866.2:c.174+7C>T	XP_006713929.1:n.174+7C>T
XM_011513419.1:c.174+7C>T	XP_011511721.1:n.174+7C>T
XR_427473.2:n.364+7C>T
XR_427475.2:n.364+7C>T
XR_427476.2:n.364+7C>T
XR_924920.1:n.364+7C>T
XR_924921.1:n.364+7C>T
XR_924922.1:n.364+7C>T
XR_924923.1:n.364+7C>T
XR_924924.1:n.364+7C>T
XR_924925.1:n.364+7C>T
XR_924926.1:n.364+7C>T
XR_924927.1:n.364+7C>T
XR_924928.1:n.366+7C>T
XM_006713865.3:c.174+7C>T	XP_006713928.1:n.174+7C>T
XM_006713866.3:c.174+7C>T	XP_006713929.1:n.174+7C>T
XM_011513419.2:c.174+7C>T	XP_011511721.1:n.174+7C>T
XM_017007883.2:c.174+7C>T	XP_016863372.1:n.174+7C>T
XR_001741164.1:n.354+7C>T
XR_001741165.1:n.354+7C>T
XR_001741166.1:n.354+7C>T
XR_001741167.1:n.354+7C>T
XR_001741168.1:n.354+7C>T
XR_001741169.2:n.356+7C>T
XR_001741170.1:n.356+7C>T
XR_427473.3:n.354+7C>T
XR_427475.3:n.354+7C>T
XR_427476.3:n.354+7C>T
XR_924920.2:n.354+7C>T
XR_924921.2:n.354+7C>T
XR_924922.2:n.354+7C>T
XR_924924.2:n.354+7C>T
XR_924925.2:n.354+7C>T
XR_924926.2:n.354+7C>T
NM_153717.3:c.174+7C>T MANE Select	NP_714928.1:n.174+7C>T
NM_001306090.2:c.174+7C>T	NP_001293019.1:n.174+7C>T
NM_001306092.2:c.174+7C>T	NP_001293021.1:n.174+7C>T