Canonical Allele Identifier: CA2658308499
Gene: CAD HGNC NCBI

Linked Data

gnomAD v4: 2-27231962-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27231962C>T , CM000664.2:g.27231962C>T GRCh38
NC_000002.11:g.27454830C>T , CM000664.1:g.27454830C>T GRCh37
NC_000002.10:g.27308334C>T NCBI36
NG_046394.1:g.19573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2401-18C>T MANE Select ENSP00000264705.3:n.2401-18C>T
ENST00000264705.8:c.2401-18C>T ENSP00000264705.3:n.2401-18C>T
ENST00000403525.5:c.2212-18C>T ENSP00000384510.1:n.2212-18C>T
ENST00000464159.1:n.149-18C>T
NM_001306079.1:c.2212-18C>T NP_001293008.1:n.2212-18C>T
NM_004341.3:c.2401-18C>T NP_004332.2:n.2401-18C>T
NM_004341.4:c.2401-18C>T NP_004332.2:n.2401-18C>T
XM_005264555.2:c.2401-18C>T XP_005264612.1:n.2401-18C>T
XM_005264556.2:c.2401-18C>T XP_005264613.1:n.2401-18C>T
XM_005264557.2:c.2401-18C>T XP_005264614.1:n.2401-18C>T
XM_006712101.1:c.2212-18C>T XP_006712164.1:n.2212-18C>T
XM_006712101.3:c.2212-18C>T XP_006712164.1:n.2212-18C>T
XM_024453131.1:c.127-18C>T XP_024308899.1:n.127-18C>T
NM_004341.5:c.2401-18C>T MANE Select NP_004332.2:n.2401-18C>T
NM_001306079.2:c.2212-18C>T NP_001293008.1:n.2212-18C>T