Canonical Allele Identifier: CA2378563

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 372349
• ClinVar RCV Id: RCV000018980 ; RCV000018981 ; RCV000414113 ; RCV000763112 ; RCV001275769
• dbSNP Id: rs201728948
• ExAC: 3:48608072 C / T
• gnomAD v2: 3-48608072-C-T
• gnomAD v3: 3-48570639-C-T
• gnomAD v4: 3-48570639-C-T
• MyVariant Identifiers: chr3:g.48608072C>T (hg19) ; chr3:g.48570639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570639C>T , CM000665.2:g.48570639C>T	GRCh38
NC_000003.11:g.48608072C>T , CM000665.1:g.48608072C>T	GRCh37
NC_000003.10:g.48583076C>T	NCBI36
NG_007065.1:g.29614G>A , LRG_286:g.29614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7344G>A MANE Select	ENSP00000506558.1:p.Val2448=
ENST00000328333.12:c.7344G>A	ENSP00000332371.8:p.Val2448=
ENST00000422991.1:c.339G>A	ENSP00000391608.1:p.Val113=
ENST00000467985.1:n.94G>A
ENST00000487017.5:n.3983G>A
NM_000094.3:c.7344G>A , LRG_286t1:c.7344G>A	NP_000085.1:p.Val2448=
XM_011533336.1:c.7371G>A	XP_011531638.1:p.Val2457=
XM_011533337.1:c.7344G>A	XP_011531639.1:p.Val2448=
XM_011533338.1:c.7371G>A	XP_011531640.1:p.Val2457=
XM_011533339.1:c.7371G>A	XP_011531641.1:p.Val2457=
XM_011533340.1:c.7371G>A	XP_011531642.1:p.Val2457=
XM_011533341.1:c.7345G>A	XP_011531643.1:p.Gly2449Arg
XM_011533342.1:c.7345G>A	XP_011531644.1:p.Gly2449Arg
XR_940369.1:n.7407G>A
XR_940370.1:n.7407G>A
XR_940371.1:n.7407G>A
XR_940372.1:n.7381G>A
XM_017005688.1:c.7344G>A	XP_016861177.1:p.Val2448=
XM_017005689.1:c.7344G>A	XP_016861178.1:p.Val2448=
XM_017005690.1:c.7344G>A	XP_016861179.1:p.Val2448=
XM_017005691.1:c.7318G>A	XP_016861180.1:p.Gly2440Arg
XM_017005692.1:c.7318G>A	XP_016861181.1:p.Gly2440Arg
XR_001740003.1:n.7380G>A
XR_001740004.1:n.7380G>A
XR_001740005.1:n.7380G>A
XR_001740006.1:n.7354G>A
NM_000094.4:c.7344G>A MANE Select	NP_000085.1:p.Val2448=