Canonical Allele Identifier: CA549402980

Gene: EVC

Linked Data

• dbSNP Id: rs1256279725
• gnomAD v2: 4-5712941-G-A
• gnomAD v3: 4-5711214-G-A
• gnomAD v4: 4-5711214-G-A
• MyVariant Identifiers: chr4:g.5712941G>A (hg19) ; chr4:g.5711214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711214G>A , CM000666.2:g.5711214G>A	GRCh38
NC_000004.11:g.5712941G>A , CM000666.1:g.5712941G>A	GRCh37
NC_000004.10:g.5763842G>A	NCBI36
NG_008843.1:g.5018G>A
NG_015821.1:g.3335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.-167G>A MANE Select	ENSP00000264956.6:n.-167G>A
ENST00000264956.10:c.-167G>A	ENSP00000264956.6:n.-167G>A
NM_001306090.1:c.-167G>A	NP_001293019.1:n.-167G>A
NM_001306092.1:c.-167G>A	NP_001293021.1:n.-167G>A
NM_153717.2:c.-167G>A	NP_714928.1:n.-167G>A
XM_006713865.2:c.-167G>A	XP_006713928.1:n.-167G>A
XM_006713866.2:c.-167G>A	XP_006713929.1:n.-167G>A
XM_011513419.1:c.-167G>A	XP_011511721.1:n.-167G>A
XR_427473.2:n.24G>A
XR_427475.2:n.24G>A
XR_427476.2:n.24G>A
XR_924920.1:n.24G>A
XR_924921.1:n.24G>A
XR_924922.1:n.24G>A
XR_924923.1:n.24G>A
XR_924924.1:n.24G>A
XR_924925.1:n.24G>A
XR_924926.1:n.24G>A
XR_924927.1:n.24G>A
XR_924928.1:n.26G>A
XM_006713865.3:c.-167G>A	XP_006713928.1:n.-167G>A
XM_006713866.3:c.-167G>A	XP_006713929.1:n.-167G>A
XM_011513419.2:c.-167G>A	XP_011511721.1:n.-167G>A
XM_017007883.2:c.-167G>A	XP_016863372.1:n.-167G>A
XR_001741164.1:n.14G>A
XR_001741165.1:n.14G>A
XR_001741166.1:n.14G>A
XR_001741167.1:n.14G>A
XR_001741168.1:n.14G>A
XR_001741169.2:n.16G>A
XR_001741170.1:n.16G>A
XR_427473.3:n.14G>A
XR_427475.3:n.14G>A
XR_427476.3:n.14G>A
XR_924920.2:n.14G>A
XR_924921.2:n.14G>A
XR_924922.2:n.14G>A
XR_924924.2:n.14G>A
XR_924925.2:n.14G>A
XR_924926.2:n.14G>A
NM_153717.3:c.-167G>A MANE Select	NP_714928.1:n.-167G>A
NM_001306090.2:c.-167G>A	NP_001293019.1:n.-167G>A
NM_001306092.2:c.-167G>A	NP_001293021.1:n.-167G>A