Canonical Allele Identifier: CA4859164

Gene: COL14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.120243911T>C , CM000670.2:g.120243911T>C	GRCh38
NC_000008.10:g.121256150T>C , CM000670.1:g.121256150T>C	GRCh37
NC_000008.9:g.121325331T>C	NCBI36
NG_033107.1:g.123804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297848.8:c.2382T>C MANE Select	ENSP00000297848.3:p.Leu794=
ENST00000297848.7:c.2382T>C	ENSP00000297848.3:p.Leu794=
ENST00000309791.8:c.2382T>C	ENSP00000311809.4:p.Leu794=
ENST00000432943.6:n.2616T>C
ENST00000434620.5:c.1821T>C	ENSP00000409461.1:p.Leu607=
NM_021110.2:c.2382T>C	NP_066933.1:p.Leu794=
XM_005251059.2:c.2382T>C	XP_005251116.1:p.Leu794=
XM_006716651.2:c.2382T>C	XP_006716714.1:p.Leu794=
NM_021110.3:c.2382T>C	NP_066933.1:p.Leu794=
XM_005251059.4:c.2382T>C	XP_005251116.1:p.Leu794=
XM_006716651.3:c.2382T>C	XP_006716714.1:p.Leu794=
XM_017013809.2:c.2382T>C	XP_016869298.1:p.Leu794=
NM_021110.4:c.2382T>C MANE Select	NP_066933.1:p.Leu794=
NM_001384947.1:c.2382T>C	NP_001371876.1:p.Leu794=