Canonical Allele Identifier: CA2378490

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1544202
• ClinVar RCV Id: RCV002172793
• dbSNP Id: rs765529435
• ExAC: 3:48607578 G / T
• gnomAD v2: 3-48607578-G-T
• gnomAD v3: 3-48570145-G-T
• gnomAD v4: 3-48570145-G-T
• MyVariant Identifiers: chr3:g.48607578G>T (hg19) ; chr3:g.48570145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570145G>T , CM000665.2:g.48570145G>T	GRCh38
NC_000003.11:g.48607578G>T , CM000665.1:g.48607578G>T	GRCh37
NC_000003.10:g.48582582G>T	NCBI36
NG_007065.1:g.30108C>A , LRG_286:g.30108C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7474C>A MANE Select	ENSP00000506558.1:p.Arg2492=
ENST00000328333.12:c.7474C>A	ENSP00000332371.8:p.Arg2492=
ENST00000422991.1:c.469C>A	ENSP00000391608.1:p.Arg157=
ENST00000459756.5:n.297C>A
ENST00000467985.1:n.320C>A
ENST00000487017.5:n.4113C>A
NM_000094.3:c.7474C>A , LRG_286t1:c.7474C>A	NP_000085.1:p.Arg2492=
XM_011533336.1:c.7501C>A	XP_011531638.1:p.Arg2501=
XM_011533337.1:c.7474C>A	XP_011531639.1:p.Arg2492=
XM_011533338.1:c.7441C>A	XP_011531640.1:p.Arg2481=
XM_011533339.1:c.7501C>A	XP_011531641.1:p.Arg2501=
XM_011533342.1:c.*29C>A	XP_011531644.1:n.*29C>A
XR_940369.1:n.7537C>A
XR_940370.1:n.7537C>A
XR_940371.1:n.7537C>A
XR_940372.1:n.7511C>A
XM_017005688.1:c.7414C>A	XP_016861177.1:p.Arg2472=
XM_017005689.1:c.7474C>A	XP_016861178.1:p.Arg2492=
XM_017005692.1:c.*29C>A	XP_016861181.1:n.*29C>A
XR_001740003.1:n.7510C>A
XR_001740004.1:n.7510C>A
XR_001740005.1:n.7510C>A
XR_001740006.1:n.7484C>A
NM_000094.4:c.7474C>A MANE Select	NP_000085.1:p.Arg2492=