Canonical Allele Identifier: CA2378317

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 903133
• ClinVar RCV Id: RCV001150258 ; RCV001294764 ; RCV001278917
• dbSNP Id: rs200138839
• ExAC: 3:48605933 G / A
• gnomAD v2: 3-48605933-G-A
• gnomAD v3: 3-48568500-G-A
• gnomAD v4: 3-48568500-G-A
• MyVariant Identifiers: chr3:g.48605933G>A (hg19) ; chr3:g.48568500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568500G>A , CM000665.2:g.48568500G>A	GRCh38
NC_000003.11:g.48605933G>A , CM000665.1:g.48605933G>A	GRCh37
NC_000003.10:g.48580937G>A	NCBI36
NG_007065.1:g.31753C>T , LRG_286:g.31753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7793C>T MANE Select	ENSP00000506558.1:p.Pro2598Leu
ENST00000328333.12:c.7793C>T	ENSP00000332371.8:p.Pro2598Leu
ENST00000459756.5:n.616C>T
ENST00000467985.1:n.639C>T
ENST00000487017.5:n.4432C>T
NM_000094.3:c.7793C>T , LRG_286t1:c.7793C>T	NP_000085.1:p.Pro2598Leu
XM_011533336.1:c.7820C>T	XP_011531638.1:p.Pro2607Leu
XM_011533337.1:c.7793C>T	XP_011531639.1:p.Pro2598Leu
XM_011533338.1:c.7760C>T	XP_011531640.1:p.Pro2587Leu
XM_011533339.1:c.7820C>T	XP_011531641.1:p.Pro2607Leu
XR_940369.1:n.7856C>T
XR_940370.1:n.7856C>T
XR_940371.1:n.7856C>T
XR_940372.1:n.7830C>T
XM_017005688.1:c.7733C>T	XP_016861177.1:p.Pro2578Leu
XM_017005689.1:c.7793C>T	XP_016861178.1:p.Pro2598Leu
XR_001740003.1:n.7829C>T
XR_001740004.1:n.7829C>T
XR_001740005.1:n.7829C>T
XR_001740006.1:n.7803C>T
NM_000094.4:c.7793C>T MANE Select	NP_000085.1:p.Pro2598Leu