Canonical Allele Identifier: CA352641176

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2468148
• ClinVar RCV Id: RCV003202244
• gnomAD v4: 3-48567629-G-A
• MyVariant Identifiers: chr3:g.48605062G>A (hg19) ; chr3:g.48567629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567629G>A , CM000665.2:g.48567629G>A	GRCh38
NC_000003.11:g.48605062G>A , CM000665.1:g.48605062G>A	GRCh37
NC_000003.10:g.48580066G>A	NCBI36
NG_007065.1:g.32624C>T , LRG_286:g.32624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7991C>T MANE Select	ENSP00000506558.1:p.Pro2664Leu
ENST00000328333.12:c.7991C>T	ENSP00000332371.8:p.Pro2664Leu
ENST00000487017.5:n.4630C>T
NM_000094.3:c.7991C>T , LRG_286t1:c.7991C>T	NP_000085.1:p.Pro2664Leu
XM_011533336.1:c.8018C>T	XP_011531638.1:p.Pro2673Leu
XM_011533337.1:c.7991C>T	XP_011531639.1:p.Pro2664Leu
XM_011533338.1:c.7958C>T	XP_011531640.1:p.Pro2653Leu
XR_940369.1:n.8054C>T
XR_940370.1:n.8054C>T
XR_940371.1:n.8054C>T
XM_017005688.1:c.7931C>T	XP_016861177.1:p.Pro2644Leu
XR_001740003.1:n.8027C>T
XR_001740004.1:n.8027C>T
XR_001740005.1:n.8027C>T
NM_000094.4:c.7991C>T MANE Select	NP_000085.1:p.Pro2664Leu