Canonical Allele Identifier: CA410499301

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 2077243
• ClinVar RCV Id: RCV002976394
• dbSNP Id: rs1198903884
• gnomAD v2: 21-46924441-C-T
• gnomAD v4: 21-45504527-C-T
• MyVariant Identifiers: chr21:g.46924441C>T (hg19) ; chr21:g.45504527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504527C>T , CM000683.2:g.45504527C>T	GRCh38
NC_000021.8:g.46924441C>T , CM000683.1:g.46924441C>T	GRCh37
NC_000021.7:g.45748869C>T	NCBI36
NG_011903.1:g.104336C>T
NG_028278.2:g.63617G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3379C>T (COL18A1)	ENSP00000347665.5:p.Pro1127Ser
ENST00000651438.1:c.2839C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Pro947Ser
ENST00000342220.9:c.880C>T (COL18A1)	ENSP00000339118.5:p.Pro294Ser
ENST00000355480.9:c.3379C>T (COL18A1)	ENSP00000347665.5:p.Pro1127Ser
ENST00000359759.8:c.4084C>T (COL18A1)	ENSP00000352798.4:p.Pro1362Ser
ENST00000400337.6:c.2839C>T (COL18A1)	ENSP00000383191.2:p.Pro947Ser
ENST00000417954.5:c.498-5915G>A (SLC19A1)
ENST00000567670.5:c.1294-5915G>A (SLC19A1)	ENSP00000457278.1:n.1294-5915G>A
XM_011529707.1:c.1585-1558G>A (SLC19A1)	XP_011528009.1:n.1585-1558G>A
XM_017028445.2:c.1585-1558G>A (SLC19A1)	XP_016883934.1:n.1585-1558G>A
NM_001379500.1:c.2839C>T (COL18A1) MANE Select	NP_001366429.1:p.Pro947Ser