Canonical Allele Identifier: CA16347338
Community Standard Title: NM_021110.4(COL14A1):c.4888+277G>A
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120342723G>A , CM000670.2:g.120342723G>A GRCh38
NC_000008.10:g.121354962G>A , CM000670.1:g.121354962G>A GRCh37
NC_000008.9:g.121424143G>A NCBI36
NG_033107.1:g.222616G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.4888+277G>A MANE Select NP_066933.1:n.4888+277G>A
ENST00000297848.8:c.4888+277G>A MANE Select ENSP00000297848.3:n.4888+277G>A
NM_001384947.1:c.4888+277G>A NP_001371876.1:n.4888+277G>A
NM_021110.2:c.4888+277G>A NP_066933.1:n.4888+277G>A
NM_021110.3:c.4888+277G>A NP_066933.1:n.4888+277G>A
ENST00000247781.4:c.1771+277G>A ENSP00000247781.4:n.1771+277G>A
ENST00000297848.7:c.4888+277G>A ENSP00000297848.3:n.4888+277G>A
ENST00000309791.8:c.4888+277G>A ENSP00000311809.4:n.4888+277G>A
XM_005251059.2:c.4888+277G>A XP_005251116.1:n.4888+277G>A
XM_005251059.4:c.4888+277G>A XP_005251116.1:n.4888+277G>A
XM_006716651.2:c.4888+277G>A XP_006716714.1:n.4888+277G>A
XM_006716651.3:c.4888+277G>A XP_006716714.1:n.4888+277G>A
XM_017013809.2:c.4888+277G>A XP_016869298.1:n.4888+277G>A