Canonical Allele Identifier: CA512709535

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 2828296
• ClinVar RCV Id: RCV003685945
• dbSNP Id: rs1347716189
• MyVariant Identifiers: chr21:g.46896300C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476386C>T , CM000683.2:g.45476386C>T	GRCh38
NC_000021.8:g.46896300C>T , CM000683.1:g.46896300C>T	GRCh37
NC_000021.7:g.45720728C>T	NCBI36
NG_011903.1:g.76204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1374C>T	ENSP00000347665.5:p.Pro458=
ENST00000651438.1:c.834C>T MANE Select	ENSP00000498485.1:p.Pro278=
ENST00000355480.9:c.1374C>T	ENSP00000347665.5:p.Pro458=
ENST00000359759.8:c.2079C>T	ENSP00000352798.4:p.Pro693=
ENST00000400337.6:c.834C>T	ENSP00000383191.2:p.Pro278=
NM_030582.3:c.1374C>T	NP_085059.2:p.Pro458=
NM_130444.2:c.2079C>T	NP_569711.2:p.Pro693=
NM_130445.3:c.834C>T	NP_569712.2:p.Pro278=
NM_030582.4:c.1374C>T	NP_085059.2:p.Pro458=
NM_130444.3:c.2079C>T	NP_569711.2:p.Pro693=
NM_130445.4:c.834C>T	NP_569712.2:p.Pro278=
NM_001379500.1:c.834C>T MANE Select	NP_001366429.1:p.Pro278=