Canonical Allele Identifier: CA2658308492
Gene: CAD HGNC NCBI

Linked Data

gnomAD v4: 2-27231943-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27231943G>T , CM000664.2:g.27231943G>T GRCh38
NC_000002.11:g.27454811G>T , CM000664.1:g.27454811G>T GRCh37
NC_000002.10:g.27308315G>T NCBI36
NG_046394.1:g.19554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264705.9:c.2401-37G>T MANE Select ENSP00000264705.3:n.2401-37G>T
ENST00000264705.8:c.2401-37G>T ENSP00000264705.3:n.2401-37G>T
ENST00000403525.5:c.2212-37G>T ENSP00000384510.1:n.2212-37G>T
ENST00000464159.1:n.149-37G>T
NM_001306079.1:c.2212-37G>T NP_001293008.1:n.2212-37G>T
NM_004341.3:c.2401-37G>T NP_004332.2:n.2401-37G>T
NM_004341.4:c.2401-37G>T NP_004332.2:n.2401-37G>T
XM_005264555.2:c.2401-37G>T XP_005264612.1:n.2401-37G>T
XM_005264556.2:c.2401-37G>T XP_005264613.1:n.2401-37G>T
XM_005264557.2:c.2401-37G>T XP_005264614.1:n.2401-37G>T
XM_006712101.1:c.2212-37G>T XP_006712164.1:n.2212-37G>T
XM_006712101.3:c.2212-37G>T XP_006712164.1:n.2212-37G>T
XM_024453131.1:c.127-37G>T XP_024308899.1:n.127-37G>T
NM_004341.5:c.2401-37G>T MANE Select NP_004332.2:n.2401-37G>T
NM_001306079.2:c.2212-37G>T NP_001293008.1:n.2212-37G>T