Canonical Allele Identifier: CA153482778

Gene: COL28A1

Linked Data

• dbSNP Id: rs986049053
• gnomAD v2: 7-7399336-G-T
• gnomAD v3: 7-7359705-G-T
• gnomAD v4: 7-7359705-G-T
• MyVariant Identifiers: chr7:g.7399336G>T (hg19) ; chr7:g.7359705G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359705G>T , CM000669.2:g.7359705G>T	GRCh38
NC_000007.13:g.7399336G>T , CM000669.1:g.7399336G>T	GRCh37
NC_000007.12:g.7365861G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399429.8:c.3205+685C>A MANE Select	ENSP00000382356.3:n.3205+685C>A
ENST00000399429.7:c.3205+685C>A	ENSP00000382356.3:n.3205+685C>A
ENST00000430711.5:c.256+685C>A	ENSP00000413093.1:n.256+685C>A
ENST00000453441.1:c.70+685C>A	ENSP00000391380.1:n.70+685C>A
NM_001037763.2:c.3205+685C>A	NP_001032852.2:n.3205+685C>A
XM_011515358.1:c.3205+685C>A	XP_011513660.1:n.3205+685C>A
XM_011515359.1:c.3205+685C>A	XP_011513661.1:n.3205+685C>A
XM_011515360.1:c.3205+685C>A	XP_011513662.1:n.3205+685C>A
XM_011515362.1:c.2056+685C>A	XP_011513664.1:n.2056+685C>A
XR_926936.1:n.3408+685C>A
XM_011515358.3:c.3205+685C>A	XP_011513660.1:n.3205+685C>A
XM_011515359.2:c.3205+685C>A	XP_011513661.1:n.3205+685C>A
XM_011515360.2:c.3205+685C>A	XP_011513662.1:n.3205+685C>A
XM_011515362.2:c.2056+685C>A	XP_011513664.1:n.2056+685C>A
XM_017012131.2:c.3205+685C>A	XP_016867620.1:n.3205+685C>A
XM_017012132.2:c.3205+685C>A	XP_016867621.1:n.3205+685C>A
XR_001744688.1:n.4831+685C>A
XR_926936.3:n.4607+685C>A
NM_001037763.3:c.3205+685C>A MANE Select	NP_001032852.2:n.3205+685C>A