Canonical Allele Identifier: CA4859796
Community Standard Title: NM_021110.4(COL14A1):c.4314+35A>T
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120297623A>T , CM000670.2:g.120297623A>T GRCh38
NC_000008.10:g.121309862A>T , CM000670.1:g.121309862A>T GRCh37
NC_000008.9:g.121379043A>T NCBI36
NG_033107.1:g.177516A>T

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.4314+35A>T MANE Select NP_066933.1:n.4314+35A>T
ENST00000297848.8:c.4314+35A>T MANE Select ENSP00000297848.3:n.4314+35A>T
NM_001384947.1:c.4314+35A>T NP_001371876.1:n.4314+35A>T
NM_021110.2:c.4314+35A>T NP_066933.1:n.4314+35A>T
NM_021110.3:c.4314+35A>T NP_066933.1:n.4314+35A>T
ENST00000247781.4:c.1197+35A>T ENSP00000247781.4:n.1197+35A>T
ENST00000297848.7:c.4314+35A>T ENSP00000297848.3:n.4314+35A>T
ENST00000309791.8:c.4314+35A>T ENSP00000311809.4:n.4314+35A>T
XM_005251059.2:c.4314+35A>T XP_005251116.1:n.4314+35A>T
XM_005251059.4:c.4314+35A>T XP_005251116.1:n.4314+35A>T
XM_006716651.2:c.4314+35A>T XP_006716714.1:n.4314+35A>T
XM_006716651.3:c.4314+35A>T XP_006716714.1:n.4314+35A>T
XM_017013809.2:c.4314+35A>T XP_016869298.1:n.4314+35A>T