Canonical Allele Identifier: CA841946355
Gene: COL28A1 HGNC NCBI

Linked Data

dbSNP Id: rs10486158
gnomAD v3: 7-7359773-C-G
gnomAD v4: 7-7359773-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359773C>G , CM000669.2:g.7359773C>G GRCh38
NC_000007.13:g.7399404C>G , CM000669.1:g.7399404C>G GRCh37
NC_000007.12:g.7365929C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000399429.8:c.3205+617G>C MANE Select ENSP00000382356.3:n.3205+617G>C
ENST00000399429.7:c.3205+617G>C ENSP00000382356.3:n.3205+617G>C
ENST00000430711.5:c.256+617G>C ENSP00000413093.1:n.256+617G>C
ENST00000453441.1:c.70+617G>C ENSP00000391380.1:n.70+617G>C
NM_001037763.2:c.3205+617G>C NP_001032852.2:n.3205+617G>C
XM_011515358.1:c.3205+617G>C XP_011513660.1:n.3205+617G>C
XM_011515359.1:c.3205+617G>C XP_011513661.1:n.3205+617G>C
XM_011515360.1:c.3205+617G>C XP_011513662.1:n.3205+617G>C
XM_011515362.1:c.2056+617G>C XP_011513664.1:n.2056+617G>C
XR_926936.1:n.3408+617G>C
XM_011515358.3:c.3205+617G>C XP_011513660.1:n.3205+617G>C
XM_011515359.2:c.3205+617G>C XP_011513661.1:n.3205+617G>C
XM_011515360.2:c.3205+617G>C XP_011513662.1:n.3205+617G>C
XM_011515362.2:c.2056+617G>C XP_011513664.1:n.2056+617G>C
XM_017012131.2:c.3205+617G>C XP_016867620.1:n.3205+617G>C
XM_017012132.2:c.3205+617G>C XP_016867621.1:n.3205+617G>C
XR_001744688.1:n.4831+617G>C
XR_926936.3:n.4607+617G>C
NM_001037763.3:c.3205+617G>C MANE Select NP_001032852.2:n.3205+617G>C