Canonical Allele Identifier: CA2378493

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2157854
• ClinVar RCV Id: RCV003078310
• dbSNP Id: rs368170769
• ExAC: 3:48607595 G / C
• gnomAD v2: 3-48607595-G-C
• gnomAD v3: 3-48570162-G-C
• gnomAD v4: 3-48570162-G-C
• MyVariant Identifiers: chr3:g.48607595G>C (hg19) ; chr3:g.48570162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570162G>C , CM000665.2:g.48570162G>C	GRCh38
NC_000003.11:g.48607595G>C , CM000665.1:g.48607595G>C	GRCh37
NC_000003.10:g.48582599G>C	NCBI36
NG_007065.1:g.30091C>G , LRG_286:g.30091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7457C>G MANE Select	ENSP00000506558.1:p.Pro2486Arg
ENST00000328333.12:c.7457C>G	ENSP00000332371.8:p.Pro2486Arg
ENST00000422991.1:c.452C>G	ENSP00000391608.1:p.Pro151Arg
ENST00000459756.5:n.280C>G
ENST00000467985.1:n.303C>G
ENST00000487017.5:n.4096C>G
NM_000094.3:c.7457C>G , LRG_286t1:c.7457C>G	NP_000085.1:p.Pro2486Arg
XM_011533336.1:c.7484C>G	XP_011531638.1:p.Pro2495Arg
XM_011533337.1:c.7457C>G	XP_011531639.1:p.Pro2486Arg
XM_011533338.1:c.7424C>G	XP_011531640.1:p.Pro2475Arg
XM_011533339.1:c.7484C>G	XP_011531641.1:p.Pro2495Arg
XM_011533340.1:c.*58C>G	XP_011531642.1:n.*58C>G
XM_011533341.1:c.*44C>G	XP_011531643.1:n.*44C>G
XM_011533342.1:c.*12C>G	XP_011531644.1:n.*12C>G
XR_940369.1:n.7520C>G
XR_940370.1:n.7520C>G
XR_940371.1:n.7520C>G
XR_940372.1:n.7494C>G
XM_017005688.1:c.7397C>G	XP_016861177.1:p.Pro2466Arg
XM_017005689.1:c.7457C>G	XP_016861178.1:p.Pro2486Arg
XM_017005690.1:c.*58C>G	XP_016861179.1:n.*58C>G
XM_017005691.1:c.*44C>G	XP_016861180.1:n.*44C>G
XM_017005692.1:c.*12C>G	XP_016861181.1:n.*12C>G
XR_001740003.1:n.7493C>G
XR_001740004.1:n.7493C>G
XR_001740005.1:n.7493C>G
XR_001740006.1:n.7467C>G
NM_000094.4:c.7457C>G MANE Select	NP_000085.1:p.Pro2486Arg