Canonical Allele Identifier: CA841946470
Gene: COL28A1 HGNC NCBI

Linked Data

dbSNP Id: rs1441601011

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359935A>G , CM000669.2:g.7359935A>G GRCh38
NC_000007.13:g.7399566A>G , CM000669.1:g.7399566A>G GRCh37
NC_000007.12:g.7366091A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399429.8:c.3205+455T>C MANE Select ENSP00000382356.3:n.3205+455T>C
ENST00000399429.7:c.3205+455T>C ENSP00000382356.3:n.3205+455T>C
ENST00000430711.5:c.256+455T>C ENSP00000413093.1:n.256+455T>C
ENST00000453441.1:c.70+455T>C ENSP00000391380.1:n.70+455T>C
NM_001037763.2:c.3205+455T>C NP_001032852.2:n.3205+455T>C
XM_011515358.1:c.3205+455T>C XP_011513660.1:n.3205+455T>C
XM_011515359.1:c.3205+455T>C XP_011513661.1:n.3205+455T>C
XM_011515360.1:c.3205+455T>C XP_011513662.1:n.3205+455T>C
XM_011515362.1:c.2056+455T>C XP_011513664.1:n.2056+455T>C
XR_926936.1:n.3408+455T>C
XM_011515358.3:c.3205+455T>C XP_011513660.1:n.3205+455T>C
XM_011515359.2:c.3205+455T>C XP_011513661.1:n.3205+455T>C
XM_011515360.2:c.3205+455T>C XP_011513662.1:n.3205+455T>C
XM_011515362.2:c.2056+455T>C XP_011513664.1:n.2056+455T>C
XM_017012131.2:c.3205+455T>C XP_016867620.1:n.3205+455T>C
XM_017012132.2:c.3205+455T>C XP_016867621.1:n.3205+455T>C
XR_001744688.1:n.4831+455T>C
XR_926936.3:n.4607+455T>C
NM_001037763.3:c.3205+455T>C MANE Select NP_001032852.2:n.3205+455T>C