Canonical Allele Identifier: CA410514369

Gene: COL18A1

Linked Data

• MyVariant Identifiers: chr21:g.46896304G>C (hg19) ; chr21:g.45476390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476390G>C , CM000683.2:g.45476390G>C	GRCh38
NC_000021.8:g.46896304G>C , CM000683.1:g.46896304G>C	GRCh37
NC_000021.7:g.45720732G>C	NCBI36
NG_011903.1:g.76208G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1378G>C	ENSP00000347665.5:p.Val460Leu
ENST00000651438.1:c.838G>C MANE Select	ENSP00000498485.1:p.Val280Leu
ENST00000355480.9:c.1378G>C	ENSP00000347665.5:p.Val460Leu
ENST00000359759.8:c.2083G>C	ENSP00000352798.4:p.Val695Leu
ENST00000400337.6:c.838G>C	ENSP00000383191.2:p.Val280Leu
NM_030582.3:c.1378G>C	NP_085059.2:p.Val460Leu
NM_130444.2:c.2083G>C	NP_569711.2:p.Val695Leu
NM_130445.3:c.838G>C	NP_569712.2:p.Val280Leu
NM_030582.4:c.1378G>C	NP_085059.2:p.Val460Leu
NM_130444.3:c.2083G>C	NP_569711.2:p.Val695Leu
NM_130445.4:c.838G>C	NP_569712.2:p.Val280Leu
NM_001379500.1:c.838G>C MANE Select	NP_001366429.1:p.Val280Leu