Canonical Allele Identifier: CA12531368

Gene: COL28A1

Linked Data

• dbSNP Id: rs10486158
• gnomAD v2: 7-7399404-C-T
• gnomAD v3: 7-7359773-C-T
• gnomAD v4: 7-7359773-C-T
• MyVariant Identifiers: chr7:g.7399404C>T (hg19) ; chr7:g.7359773C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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