Canonical Allele Identifier: CA10066879

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 340239
• ClinVar RCV Id: RCV000266078 ; RCV002057771 ; RCV004549792
• dbSNP Id: rs369701764
• ExAC: 21:46912485 G / C
• gnomAD v2: 21-46912485-G-C
• gnomAD v3: 21-45492571-G-C
• gnomAD v4: 21-45492571-G-C
• MyVariant Identifiers: chr21:g.46912485G>C (hg19) ; chr21:g.45492571G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45492571G>C , CM000683.2:g.45492571G>C	GRCh38
NC_000021.8:g.46912485G>C , CM000683.1:g.46912485G>C	GRCh37
NC_000021.7:g.45736913G>C	NCBI36
NG_011903.1:g.92389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.2727+7G>C	ENSP00000347665.5:n.2727+7G>C
ENST00000651438.1:c.2187+7G>C MANE Select	ENSP00000498485.1:n.2187+7G>C
ENST00000342220.9:c.228+7G>C	ENSP00000339118.5:n.228+7G>C
ENST00000355480.9:c.2727+7G>C	ENSP00000347665.5:n.2727+7G>C
ENST00000359759.8:c.3432+7G>C	ENSP00000352798.4:n.3432+7G>C
ENST00000400337.6:c.2187+7G>C	ENSP00000383191.2:n.2187+7G>C
NM_030582.3:c.2727+7G>C	NP_085059.2:n.2727+7G>C
NM_130444.2:c.3432+7G>C	NP_569711.2:n.3432+7G>C
NM_130445.3:c.2187+7G>C	NP_569712.2:n.2187+7G>C
NM_030582.4:c.2727+7G>C	NP_085059.2:n.2727+7G>C
NM_130444.3:c.3432+7G>C	NP_569711.2:n.3432+7G>C
NM_130445.4:c.2187+7G>C	NP_569712.2:n.2187+7G>C
NM_001379500.1:c.2187+7G>C MANE Select	NP_001366429.1:n.2187+7G>C