Canonical Allele Identifier: CA433533846

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 798784
• ClinVar RCV Id: RCV000982351
• dbSNP Id: rs1575424040
• MyVariant Identifiers: chr3:g.48607588C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570155C>T , CM000665.2:g.48570155C>T	GRCh38
NC_000003.11:g.48607588C>T , CM000665.1:g.48607588C>T	GRCh37
NC_000003.10:g.48582592C>T	NCBI36
NG_007065.1:g.30098G>A , LRG_286:g.30098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7464G>A MANE Select	ENSP00000506558.1:p.Gln2488=
ENST00000328333.12:c.7464G>A	ENSP00000332371.8:p.Gln2488=
ENST00000422991.1:c.459G>A	ENSP00000391608.1:p.Gln153=
ENST00000459756.5:n.287G>A
ENST00000467985.1:n.310G>A
ENST00000487017.5:n.4103G>A
NM_000094.3:c.7464G>A , LRG_286t1:c.7464G>A	NP_000085.1:p.Gln2488=
XM_011533336.1:c.7491G>A	XP_011531638.1:p.Gln2497=
XM_011533337.1:c.7464G>A	XP_011531639.1:p.Gln2488=
XM_011533338.1:c.7431G>A	XP_011531640.1:p.Gln2477=
XM_011533339.1:c.7491G>A	XP_011531641.1:p.Gln2497=
XM_011533342.1:c.*19G>A	XP_011531644.1:n.*19G>A
XR_940369.1:n.7527G>A
XR_940370.1:n.7527G>A
XR_940371.1:n.7527G>A
XR_940372.1:n.7501G>A
XM_017005688.1:c.7404G>A	XP_016861177.1:p.Gln2468=
XM_017005689.1:c.7464G>A	XP_016861178.1:p.Gln2488=
XM_017005692.1:c.*19G>A	XP_016861181.1:n.*19G>A
XR_001740003.1:n.7500G>A
XR_001740004.1:n.7500G>A
XR_001740005.1:n.7500G>A
XR_001740006.1:n.7474G>A
NM_000094.4:c.7464G>A MANE Select	NP_000085.1:p.Gln2488=