Canonical Allele Identifier: CA11351437

Linked Data

dbSNP Id: rs17035945
gnomAD v2: 3-12194628-C-T
gnomAD v3: 3-12153128-C-T
gnomAD v4: 3-12153128-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12153128C>T , CM000665.2:g.12153128C>T GRCh38
NC_000003.11:g.12194628C>T , CM000665.1:g.12194628C>T GRCh37
NC_000003.10:g.12169628C>T NCBI36
NG_011728.2:g.153741C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287814.5:c.*387G>A (TIMP4) MANE Select ENSP00000287814.4:n.*387G>A
ENST00000621198.5:c.774+1802C>T (SYN2) MANE Select ENSP00000480050.1:n.774+1802C>T
ENST00000287814.4:c.*387G>A (TIMP4) ENSP00000287814.4:n.*387G>A
ENST00000439861.5:n.225+1802C>T (SYN2)
ENST00000620175.4:c.774+1802C>T (SYN2) ENSP00000484916.1:n.774+1802C>T
ENST00000621198.4:c.774+1802C>T (SYN2) ENSP00000480050.1:n.774+1802C>T
NM_003178.5:c.774+1802C>T (SYN2) NP_003169.2:n.774+1802C>T
NM_003256.3:c.*387G>A (TIMP4) NP_003247.1:n.*387G>A
NM_133625.4:c.774+1802C>T (SYN2) NP_598328.1:n.774+1802C>T
XM_006713311.2:c.774+1802C>T (SYN2) XP_006713374.1:n.774+1802C>T
XM_006713312.2:c.291+1802C>T (SYN2) XP_006713375.1:n.291+1802C>T
XM_006713313.2:c.3+1802C>T (SYN2) XP_006713376.1:n.3+1802C>T
XM_006713311.3:c.774+1802C>T (SYN2) XP_006713374.1:n.774+1802C>T
XM_006713312.4:c.291+1802C>T (SYN2) XP_006713375.1:n.291+1802C>T
XR_001740240.1:n.960+1802C>T (SYN2)
NM_003256.4:c.*387G>A (TIMP4) MANE Select NP_003247.1:n.*387G>A
NM_133625.5:c.774+1802C>T (SYN2) NP_598328.1:n.774+1802C>T
NM_133625.6:c.774+1802C>T (SYN2) MANE Select NP_598328.1:n.774+1802C>T
NM_003178.6:c.774+1802C>T (SYN2) NP_003169.2:n.774+1802C>T