Canonical Allele Identifier: CA2378209

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2501426
• ClinVar RCV Id: RCV003227221
• dbSNP Id: rs756771873
• ExAC: 3:48605066 C / A
• gnomAD v2: 3-48605066-C-A
• gnomAD v4: 3-48567633-C-A
• MyVariant Identifiers: chr3:g.48605066C>A (hg19) ; chr3:g.48567633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567633C>A , CM000665.2:g.48567633C>A	GRCh38
NC_000003.11:g.48605066C>A , CM000665.1:g.48605066C>A	GRCh37
NC_000003.10:g.48580070C>A	NCBI36
NG_007065.1:g.32620G>T , LRG_286:g.32620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7987G>T MANE Select	ENSP00000506558.1:p.Glu2663Ter
ENST00000328333.12:c.7987G>T	ENSP00000332371.8:p.Glu2663Ter
ENST00000487017.5:n.4626G>T
NM_000094.3:c.7987G>T , LRG_286t1:c.7987G>T	NP_000085.1:p.Glu2663Ter
XM_011533336.1:c.8014G>T	XP_011531638.1:p.Glu2672Ter
XM_011533337.1:c.7987G>T	XP_011531639.1:p.Glu2663Ter
XM_011533338.1:c.7954G>T	XP_011531640.1:p.Glu2652Ter
XR_940369.1:n.8050G>T
XR_940370.1:n.8050G>T
XR_940371.1:n.8050G>T
XM_017005688.1:c.7927G>T	XP_016861177.1:p.Glu2643Ter
XR_001740003.1:n.8023G>T
XR_001740004.1:n.8023G>T
XR_001740005.1:n.8023G>T
NM_000094.4:c.7987G>T MANE Select	NP_000085.1:p.Glu2663Ter