Canonical Allele Identifier: CA433532825

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2839379
• ClinVar RCV Id: RCV003723427
• MyVariant Identifiers: chr3:g.48605164C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567731C>T , CM000665.2:g.48567731C>T	GRCh38
NC_000003.11:g.48605164C>T , CM000665.1:g.48605164C>T	GRCh37
NC_000003.10:g.48580168C>T	NCBI36
NG_007065.1:g.32522G>A , LRG_286:g.32522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7962G>A MANE Select	ENSP00000506558.1:p.Leu2654=
ENST00000328333.12:c.7962G>A	ENSP00000332371.8:p.Leu2654=
ENST00000459756.5:n.785G>A
ENST00000487017.5:n.4601G>A
NM_000094.3:c.7962G>A , LRG_286t1:c.7962G>A	NP_000085.1:p.Leu2654=
XM_011533336.1:c.7989G>A	XP_011531638.1:p.Leu2663=
XM_011533337.1:c.7962G>A	XP_011531639.1:p.Leu2654=
XM_011533338.1:c.7929G>A	XP_011531640.1:p.Leu2643=
XR_940369.1:n.8025G>A
XR_940370.1:n.8025G>A
XR_940371.1:n.8025G>A
XM_017005688.1:c.7902G>A	XP_016861177.1:p.Leu2634=
XR_001740003.1:n.7998G>A
XR_001740004.1:n.7998G>A
XR_001740005.1:n.7998G>A
NM_000094.4:c.7962G>A MANE Select	NP_000085.1:p.Leu2654=