Canonical Allele Identifier: CA410514381
Gene: COL18A1 HGNC NCBI

Linked Data

dbSNP Id: rs768811791

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45476394C>T , CM000683.2:g.45476394C>T GRCh38
NC_000021.8:g.46896308C>T , CM000683.1:g.46896308C>T GRCh37
NC_000021.7:g.45720736C>T NCBI36
NG_011903.1:g.76212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.1382C>T ENSP00000347665.5:p.Thr461Ile
ENST00000651438.1:c.842C>T MANE Select ENSP00000498485.1:p.Thr281Ile
ENST00000355480.9:c.1382C>T ENSP00000347665.5:p.Thr461Ile
ENST00000359759.8:c.2087C>T ENSP00000352798.4:p.Thr696Ile
ENST00000400337.6:c.842C>T ENSP00000383191.2:p.Thr281Ile
NM_030582.3:c.1382C>T NP_085059.2:p.Thr461Ile
NM_130444.2:c.2087C>T NP_569711.2:p.Thr696Ile
NM_130445.3:c.842C>T NP_569712.2:p.Thr281Ile
NM_030582.4:c.1382C>T NP_085059.2:p.Thr461Ile
NM_130444.3:c.2087C>T NP_569711.2:p.Thr696Ile
NM_130445.4:c.842C>T NP_569712.2:p.Thr281Ile
NM_001379500.1:c.842C>T MANE Select NP_001366429.1:p.Thr281Ile