Canonical Allele Identifier: CA352635254

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2155547
• ClinVar RCV Id: RCV003072393
• gnomAD v4: 3-48565487-G-A
• MyVariant Identifiers: chr3:g.48602920G>A (hg19) ; chr3:g.48565487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565487G>A , CM000665.2:g.48565487G>A	GRCh38
NC_000003.11:g.48602920G>A , CM000665.1:g.48602920G>A	GRCh37
NC_000003.10:g.48577924G>A	NCBI36
NG_007065.1:g.34766C>T , LRG_286:g.34766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8450C>T MANE Select	ENSP00000506558.1:p.Pro2817Leu
ENST00000328333.12:c.8450C>T	ENSP00000332371.8:p.Pro2817Leu
ENST00000487017.5:n.5089C>T
NM_000094.3:c.8450C>T , LRG_286t1:c.8450C>T	NP_000085.1:p.Pro2817Leu
XM_011533336.1:c.8477C>T	XP_011531638.1:p.Pro2826Leu
XM_011533337.1:c.8450C>T	XP_011531639.1:p.Pro2817Leu
XM_011533338.1:c.8417C>T	XP_011531640.1:p.Pro2806Leu
XR_940369.1:n.8513C>T
XR_940370.1:n.8513C>T
XR_940371.1:n.8513C>T
XM_017005688.1:c.8390C>T	XP_016861177.1:p.Pro2797Leu
XR_001740003.1:n.8486C>T
XR_001740004.1:n.8486C>T
XR_001740005.1:n.8486C>T
NM_000094.4:c.8450C>T MANE Select	NP_000085.1:p.Pro2817Leu