Canonical Allele Identifier: CA16042523
Gene: COL7A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372350
ClinVar RCV Id: RCV000414518

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570129C>T , CM000665.2:g.48570129C>T GRCh38
NC_000003.11:g.48607562C>T , CM000665.1:g.48607562C>T GRCh37
NC_000003.10:g.48582566C>T NCBI36
NG_007065.1:g.30124G>A , LRG_286:g.30124G>A

Transcript Alleles

HGVS Amino-acid change
NM_000094.3:c.7485+5G>A , LRG_286t1:c.7485+5G>A NP_000085.1:p.=
XM_011533336.1:c.7512+5G>A XP_011531638.1:p.=
XM_011533337.1:c.7485+5G>A XP_011531639.1:p.=
XM_011533338.1:c.7452+5G>A XP_011531640.1:p.=
XM_011533339.1:c.7512+5G>A XP_011531641.1:p.=
XM_011533342.1:c.*40+5G>A XP_011531644.1:p.=
XR_940369.1:n.7548+5G>A
XR_940370.1:n.7548+5G>A
XR_940371.1:n.7548+5G>A
XR_940372.1:n.7522+5G>A
XM_017005688.1:c.7425+5G>A XP_016861177.1:p.=
XM_017005689.1:c.7485+5G>A XP_016861178.1:p.=
XM_017005692.1:c.*40+5G>A XP_016861181.1:p.=
XR_001740003.1:n.7521+5G>A
XR_001740004.1:n.7521+5G>A
XR_001740005.1:n.7521+5G>A
XR_001740006.1:n.7495+5G>A
ENST00000328333.12:c.7485+5G>A ENSP00000332371.8:p.=
ENST00000422991.1:c.480+5G>A ENSP00000391608.1:p.=
ENST00000459756.5:n.308+5G>A
ENST00000467985.1:n.331+5G>A
ENST00000487017.5:n.4124+5G>A