Canonical Allele Identifier: CA2669805793

Gene: EVC

Linked Data

• gnomAD v4: 4-5711200-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711200T>C , CM000666.2:g.5711200T>C	GRCh38
NC_000004.11:g.5712927T>C , CM000666.1:g.5712927T>C	GRCh37
NC_000004.10:g.5763828T>C	NCBI36
NG_008843.1:g.5004T>C
NG_015821.1:g.3349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.10:c.-181T>C	ENSP00000264956.6:n.-181T>C
NM_001306090.1:c.-181T>C	NP_001293019.1:n.-181T>C
NM_001306092.1:c.-181T>C	NP_001293021.1:n.-181T>C
NM_153717.2:c.-181T>C	NP_714928.1:n.-181T>C
XM_006713865.2:c.-181T>C	XP_006713928.1:n.-181T>C
XM_006713866.2:c.-181T>C	XP_006713929.1:n.-181T>C
XM_011513419.1:c.-181T>C	XP_011511721.1:n.-181T>C
XR_427473.2:n.10T>C
XR_427475.2:n.10T>C
XR_427476.2:n.10T>C
XR_924920.1:n.10T>C
XR_924921.1:n.10T>C
XR_924922.1:n.10T>C
XR_924923.1:n.10T>C
XR_924924.1:n.10T>C
XR_924925.1:n.10T>C
XR_924926.1:n.10T>C
XR_924927.1:n.10T>C
XR_924928.1:n.12T>C
XM_006713865.3:c.-181T>C	XP_006713928.1:n.-181T>C
XM_006713866.3:c.-181T>C	XP_006713929.1:n.-181T>C
XR_001741169.2:n.2T>C
XR_001741170.1:n.2T>C