Canonical Allele Identifier: CA352641796

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2203355
• ClinVar RCV Id: RCV002664305
• COSMIC: COSM3594960
• MyVariant Identifiers: chr3:g.48605530C>T (hg19) ; chr3:g.48568097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568097C>T , CM000665.2:g.48568097C>T	GRCh38
NC_000003.11:g.48605530C>T , CM000665.1:g.48605530C>T	GRCh37
NC_000003.10:g.48580534C>T	NCBI36
NG_007065.1:g.32156G>A , LRG_286:g.32156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7868G>A MANE Select	ENSP00000506558.1:p.Gly2623Asp
ENST00000328333.12:c.7868G>A	ENSP00000332371.8:p.Gly2623Asp
ENST00000459756.5:n.691G>A
ENST00000487017.5:n.4507G>A
NM_000094.3:c.7868G>A , LRG_286t1:c.7868G>A	NP_000085.1:p.Gly2623Asp
XM_011533336.1:c.7895G>A	XP_011531638.1:p.Gly2632Asp
XM_011533337.1:c.7868G>A	XP_011531639.1:p.Gly2623Asp
XM_011533338.1:c.7835G>A	XP_011531640.1:p.Gly2612Asp
XR_940369.1:n.7931G>A
XR_940370.1:n.7931G>A
XR_940371.1:n.7931G>A
XM_017005688.1:c.7808G>A	XP_016861177.1:p.Gly2603Asp
XR_001740003.1:n.7904G>A
XR_001740004.1:n.7904G>A
XR_001740005.1:n.7904G>A
NM_000094.4:c.7868G>A MANE Select	NP_000085.1:p.Gly2623Asp