Canonical Allele Identifier: CA438206430

Gene: EVC

Linked Data

• ClinVar Variation Id: 1162010
• ClinVar RCV Id: RCV001506774
• dbSNP Id: rs1377348889
• gnomAD v4: 4-5711455-C-T
• MyVariant Identifiers: chr4:g.5713182C>T (hg19) ; chr4:g.5711455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711455C>T , CM000666.2:g.5711455C>T	GRCh38
NC_000004.11:g.5713182C>T , CM000666.1:g.5713182C>T	GRCh37
NC_000004.10:g.5764083C>T	NCBI36
NG_008843.1:g.5259C>T
NG_015821.1:g.3094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264956.11:c.75C>T MANE Select	ENSP00000264956.6:p.Pro25=
ENST00000264956.10:c.75C>T	ENSP00000264956.6:p.Pro25=
ENST00000509451.1:c.75C>T	ENSP00000426774.1:p.Pro25=
NM_001306090.1:c.75C>T	NP_001293019.1:p.Pro25=
NM_001306092.1:c.75C>T	NP_001293021.1:p.Pro25=
NM_153717.2:c.75C>T	NP_714928.1:p.Pro25=
XM_006713865.2:c.75C>T	XP_006713928.1:p.Pro25=
XM_006713866.2:c.75C>T	XP_006713929.1:p.Pro25=
XM_011513419.1:c.75C>T	XP_011511721.1:p.Pro25=
XR_427473.2:n.265C>T
XR_427475.2:n.265C>T
XR_427476.2:n.265C>T
XR_924920.1:n.265C>T
XR_924921.1:n.265C>T
XR_924922.1:n.265C>T
XR_924923.1:n.265C>T
XR_924924.1:n.265C>T
XR_924925.1:n.265C>T
XR_924926.1:n.265C>T
XR_924927.1:n.265C>T
XR_924928.1:n.267C>T
XM_006713865.3:c.75C>T	XP_006713928.1:p.Pro25=
XM_006713866.3:c.75C>T	XP_006713929.1:p.Pro25=
XM_011513419.2:c.75C>T	XP_011511721.1:p.Pro25=
XM_017007883.2:c.75C>T	XP_016863372.1:p.Pro25=
XR_001741164.1:n.255C>T
XR_001741165.1:n.255C>T
XR_001741166.1:n.255C>T
XR_001741167.1:n.255C>T
XR_001741168.1:n.255C>T
XR_001741169.2:n.257C>T
XR_001741170.1:n.257C>T
XR_427473.3:n.255C>T
XR_427475.3:n.255C>T
XR_427476.3:n.255C>T
XR_924920.2:n.255C>T
XR_924921.2:n.255C>T
XR_924922.2:n.255C>T
XR_924924.2:n.255C>T
XR_924925.2:n.255C>T
XR_924926.2:n.255C>T
NM_153717.3:c.75C>T MANE Select	NP_714928.1:p.Pro25=
NM_001306090.2:c.75C>T	NP_001293019.1:p.Pro25=
NM_001306092.2:c.75C>T	NP_001293021.1:p.Pro25=