Canonical Allele Identifier: CA321926975

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs940510177
• gnomAD v3: 21-45511673-A-C
• gnomAD v4: 21-45511673-A-C
• MyVariant Identifiers: chr21:g.46931587A>C (hg19) ; chr21:g.45511673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511673A>C , CM000683.2:g.45511673A>C	GRCh38
NC_000021.8:g.46931587A>C , CM000683.1:g.46931587A>C	GRCh37
NC_000021.7:g.45756015A>C	NCBI36
NG_011903.1:g.111482A>C
NG_028278.2:g.56471T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4349+447A>C (COL18A1)	ENSP00000347665.5:n.4349+447A>C
ENST00000651438.1:c.3809+447A>C (COL18A1) MANE Select	ENSP00000498485.1:n.3809+447A>C
ENST00000342220.9:c.1853+447A>C (COL18A1)	ENSP00000339118.5:n.1853+447A>C
ENST00000355480.9:c.4349+447A>C (COL18A1)	ENSP00000347665.5:n.4349+447A>C
ENST00000359759.8:c.5054+447A>C (COL18A1)	ENSP00000352798.4:n.5054+447A>C
ENST00000400337.6:c.3809+447A>C (COL18A1)	ENSP00000383191.2:n.3809+447A>C
ENST00000417954.5:c.498-13061T>G (SLC19A1)
ENST00000423214.1:c.763+447A>C (COL18A1)
ENST00000473212.1:n.2135+447A>C (COL18A1)
ENST00000567670.5:c.1294-13061T>G (SLC19A1)	ENSP00000457278.1:n.1294-13061T>G
NM_030582.3:c.4340+447A>C (COL18A1)	NP_085059.2:n.4340+447A>C
NM_130444.2:c.5045+447A>C (COL18A1)	NP_569711.2:n.5045+447A>C
NM_130445.3:c.3800+447A>C (COL18A1)	NP_569712.2:n.3800+447A>C
XM_011529707.1:c.1585-8704T>G (SLC19A1)	XP_011528009.1:n.1585-8704T>G
XM_017028445.2:c.1585-8704T>G (SLC19A1)	XP_016883934.1:n.1585-8704T>G
NM_030582.4:c.4340+447A>C (COL18A1)	NP_085059.2:n.4340+447A>C
NM_130444.3:c.5045+447A>C (COL18A1)	NP_569711.2:n.5045+447A>C
NM_130445.4:c.3800+447A>C (COL18A1)	NP_569712.2:n.3800+447A>C
NM_001379500.1:c.3809+447A>C (COL18A1) MANE Select	NP_001366429.1:n.3809+447A>C