Canonical Allele Identifier: CA512708398

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45468426C>T , CM000683.2:g.45468426C>T	GRCh38
NC_000021.8:g.46888340C>T , CM000683.1:g.46888340C>T	GRCh37
NC_000021.7:g.45712768C>T	NCBI36
NG_011903.1:g.68244C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.291C>T MANE Select	NP_001366429.1:p.His97=
ENST00000651438.1:c.291C>T MANE Select	ENSP00000498485.1:p.His97=
NM_030582.3:c.831C>T	NP_085059.2:p.His277=
NM_030582.4:c.831C>T	NP_085059.2:p.His277=
NM_130444.2:c.1536C>T	NP_569711.2:p.His512=
NM_130444.3:c.1536C>T	NP_569711.2:p.His512=
NM_130445.3:c.291C>T	NP_569712.2:p.His97=
NM_130445.4:c.291C>T	NP_569712.2:p.His97=
ENST00000355480.10:c.831C>T	ENSP00000347665.5:p.His277=
ENST00000355480.9:c.831C>T	ENSP00000347665.5:p.His277=
ENST00000359759.8:c.1536C>T	ENSP00000352798.4:p.His512=
ENST00000400337.6:c.291C>T	ENSP00000383191.2:p.His97=