Canonical Allele Identifier: CA14894380

Gene: COL18A1 SLC19A1

Linked Data

• ClinVar Variation Id: 1257884
• ClinVar RCV Id: RCV001665847
• dbSNP Id: rs13048249
• gnomAD v2: 21-46924977-C-T
• gnomAD v3: 21-45505063-C-T
• gnomAD v4: 21-45505063-C-T
• MyVariant Identifiers: chr21:g.46924977C>T (hg19) ; chr21:g.45505063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505063C>T , CM000683.2:g.45505063C>T	GRCh38
NC_000021.8:g.46924977C>T , CM000683.1:g.46924977C>T	GRCh37
NC_000021.7:g.45749405C>T	NCBI36
NG_011903.1:g.104872C>T
NG_028278.2:g.63081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.3409-71C>T (COL18A1)	ENSP00000347665.5:n.3409-71C>T
ENST00000651438.1:c.2869-71C>T (COL18A1) MANE Select	ENSP00000498485.1:n.2869-71C>T
ENST00000342220.9:c.910-71C>T (COL18A1)	ENSP00000339118.5:n.910-71C>T
ENST00000355480.9:c.3409-71C>T (COL18A1)	ENSP00000347665.5:n.3409-71C>T
ENST00000359759.8:c.4114-71C>T (COL18A1)	ENSP00000352798.4:n.4114-71C>T
ENST00000400337.6:c.2869-71C>T (COL18A1)	ENSP00000383191.2:n.2869-71C>T
ENST00000417954.5:c.498-6451G>A (SLC19A1)
ENST00000567670.5:c.1294-6451G>A (SLC19A1)	ENSP00000457278.1:n.1294-6451G>A
NM_030582.3:c.3400-71C>T (COL18A1)	NP_085059.2:n.3400-71C>T
NM_130444.2:c.4105-71C>T (COL18A1)	NP_569711.2:n.4105-71C>T
NM_130445.3:c.2860-71C>T (COL18A1)	NP_569712.2:n.2860-71C>T
XM_011529707.1:c.1585-2094G>A (SLC19A1)	XP_011528009.1:n.1585-2094G>A
XM_017028445.2:c.1585-2094G>A (SLC19A1)	XP_016883934.1:n.1585-2094G>A
NM_030582.4:c.3400-71C>T (COL18A1)	NP_085059.2:n.3400-71C>T
NM_130444.3:c.4105-71C>T (COL18A1)	NP_569711.2:n.4105-71C>T
NM_130445.4:c.2860-71C>T (COL18A1)	NP_569712.2:n.2860-71C>T
NM_001379500.1:c.2869-71C>T (COL18A1) MANE Select	NP_001366429.1:n.2869-71C>T