Canonical Allele Identifier: CA10067509

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 283501
• ClinVar RCV Id: RCV000384279 ; RCV004547681
• dbSNP Id: rs202106628
• ExAC: 21:46924451 G / A
• gnomAD v2: 21-46924451-G-A
• gnomAD v3: 21-45504537-G-A
• gnomAD v4: 21-45504537-G-A
• MyVariant Identifiers: chr21:g.46924451G>A (hg19) ; chr21:g.45504537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504537G>A , CM000683.2:g.45504537G>A	GRCh38
NC_000021.8:g.46924451G>A , CM000683.1:g.46924451G>A	GRCh37
NC_000021.7:g.45748879G>A	NCBI36
NG_011903.1:g.104346G>A
NG_028278.2:g.63607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3389G>A (COL18A1)	ENSP00000347665.5:p.Arg1130His
ENST00000651438.1:c.2849G>A (COL18A1) MANE Select	ENSP00000498485.1:p.Arg950His
ENST00000342220.9:c.890G>A (COL18A1)	ENSP00000339118.5:p.Arg297His
ENST00000355480.9:c.3389G>A (COL18A1)	ENSP00000347665.5:p.Arg1130His
ENST00000359759.8:c.4094G>A (COL18A1)	ENSP00000352798.4:p.Arg1365His
ENST00000400337.6:c.2849G>A (COL18A1)	ENSP00000383191.2:p.Arg950His
ENST00000417954.5:c.498-5925C>T (SLC19A1)
ENST00000567670.5:c.1294-5925C>T (SLC19A1)	ENSP00000457278.1:n.1294-5925C>T
NM_030582.3:c.3380G>A (COL18A1)	NP_085059.2:p.Arg1127His
NM_130444.2:c.4085G>A (COL18A1)	NP_569711.2:p.Arg1362His
NM_130445.3:c.2840G>A (COL18A1)	NP_569712.2:p.Arg947His
XM_011529707.1:c.1585-1568C>T (SLC19A1)	XP_011528009.1:n.1585-1568C>T
XM_017028445.2:c.1585-1568C>T (SLC19A1)	XP_016883934.1:n.1585-1568C>T
NM_030582.4:c.3380G>A (COL18A1)	NP_085059.2:p.Arg1127His
NM_130444.3:c.4085G>A (COL18A1)	NP_569711.2:p.Arg1362His
NM_130445.4:c.2840G>A (COL18A1)	NP_569712.2:p.Arg947His
NM_001379500.1:c.2849G>A (COL18A1) MANE Select	NP_001366429.1:p.Arg950His