Canonical Allele Identifier: CA184412851
Community Standard Title: NM_021110.4(COL14A1):c.3968-54C>A
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120285807C>A , CM000670.2:g.120285807C>A GRCh38
NC_000008.10:g.121298046C>A , CM000670.1:g.121298046C>A GRCh37
NC_000008.9:g.121367227C>A NCBI36
NG_033107.1:g.165700C>A

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.3968-54C>A MANE Select NP_066933.1:n.3968-54C>A
ENST00000297848.8:c.3968-54C>A MANE Select ENSP00000297848.3:n.3968-54C>A
NM_001384947.1:c.3968-54C>A NP_001371876.1:n.3968-54C>A
NM_021110.2:c.3968-54C>A NP_066933.1:n.3968-54C>A
NM_021110.3:c.3968-54C>A NP_066933.1:n.3968-54C>A
ENST00000247781.4:c.851-54C>A ENSP00000247781.4:n.851-54C>A
ENST00000297848.7:c.3968-54C>A ENSP00000297848.3:n.3968-54C>A
ENST00000309791.8:c.3968-54C>A ENSP00000311809.4:n.3968-54C>A
XM_005251059.2:c.3968-54C>A XP_005251116.1:n.3968-54C>A
XM_005251059.4:c.3968-54C>A XP_005251116.1:n.3968-54C>A
XM_006716651.2:c.3968-54C>A XP_006716714.1:n.3968-54C>A
XM_006716651.3:c.3968-54C>A XP_006716714.1:n.3968-54C>A
XM_017013809.2:c.3968-54C>A XP_016869298.1:n.3968-54C>A