Canonical Allele Identifier: CA184388958
Community Standard Title: NM_021110.4(COL14A1):c.2869+134A>G
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120255490A>G , CM000670.2:g.120255490A>G GRCh38
NC_000008.10:g.121267729A>G , CM000670.1:g.121267729A>G GRCh37
NC_000008.9:g.121336910A>G NCBI36
NG_033107.1:g.135383A>G

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.2869+134A>G MANE Select NP_066933.1:n.2869+134A>G
ENST00000297848.8:c.2869+134A>G MANE Select ENSP00000297848.3:n.2869+134A>G
NM_001384947.1:c.2869+134A>G NP_001371876.1:n.2869+134A>G
NM_021110.2:c.2869+134A>G NP_066933.1:n.2869+134A>G
NM_021110.3:c.2869+134A>G NP_066933.1:n.2869+134A>G
ENST00000247781.4:c.-244+134A>G ENSP00000247781.4:n.-244+134A>G
ENST00000297848.7:c.2869+134A>G ENSP00000297848.3:n.2869+134A>G
ENST00000309791.8:c.2869+134A>G ENSP00000311809.4:n.2869+134A>G
ENST00000432943.6:n.3103+134A>G
ENST00000434620.5:c.2308+134A>G ENSP00000409461.1:n.2308+134A>G
XM_005251059.2:c.2869+134A>G XP_005251116.1:n.2869+134A>G
XM_005251059.4:c.2869+134A>G XP_005251116.1:n.2869+134A>G
XM_006716651.2:c.2869+134A>G XP_006716714.1:n.2869+134A>G
XM_006716651.3:c.2869+134A>G XP_006716714.1:n.2869+134A>G
XM_017013809.2:c.2869+134A>G XP_016869298.1:n.2869+134A>G