Canonical Allele Identifier: CA2658308804
Gene: CAD HGNC NCBI

Linked Data

gnomAD v4: 2-27232235-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27232235G>A , CM000664.2:g.27232235G>A GRCh38
NC_000002.11:g.27455103G>A , CM000664.1:g.27455103G>A GRCh37
NC_000002.10:g.27308607G>A NCBI36
NG_046394.1:g.19846G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2645+11G>A MANE Select ENSP00000264705.3:n.2645+11G>A
ENST00000264705.8:c.2645+11G>A ENSP00000264705.3:n.2645+11G>A
ENST00000403525.5:c.2456+11G>A ENSP00000384510.1:n.2456+11G>A
ENST00000464159.1:n.393+11G>A
NM_001306079.1:c.2456+11G>A NP_001293008.1:n.2456+11G>A
NM_004341.3:c.2645+11G>A NP_004332.2:n.2645+11G>A
NM_004341.4:c.2645+11G>A NP_004332.2:n.2645+11G>A
XM_005264555.2:c.2645+11G>A XP_005264612.1:n.2645+11G>A
XM_005264556.2:c.2645+11G>A XP_005264613.1:n.2645+11G>A
XM_005264557.2:c.2645+11G>A XP_005264614.1:n.2645+11G>A
XM_006712101.1:c.2456+11G>A XP_006712164.1:n.2456+11G>A
XM_006712101.3:c.2456+11G>A XP_006712164.1:n.2456+11G>A
XM_024453131.1:c.371+11G>A XP_024308899.1:n.371+11G>A
NM_004341.5:c.2645+11G>A MANE Select NP_004332.2:n.2645+11G>A
NM_001306079.2:c.2456+11G>A NP_001293008.1:n.2456+11G>A