Canonical Allele Identifier: CA352642198

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568512-A-T
• MyVariant Identifiers: chr3:g.48605945A>T (hg19) ; chr3:g.48568512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568512A>T , CM000665.2:g.48568512A>T	GRCh38
NC_000003.11:g.48605945A>T , CM000665.1:g.48605945A>T	GRCh37
NC_000003.10:g.48580949A>T	NCBI36
NG_007065.1:g.31741T>A , LRG_286:g.31741T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7781T>A MANE Select	ENSP00000506558.1:p.Ile2594Asn
ENST00000328333.12:c.7781T>A	ENSP00000332371.8:p.Ile2594Asn
ENST00000459756.5:n.604T>A
ENST00000467985.1:n.627T>A
ENST00000487017.5:n.4420T>A
NM_000094.3:c.7781T>A , LRG_286t1:c.7781T>A	NP_000085.1:p.Ile2594Asn
XM_011533336.1:c.7808T>A	XP_011531638.1:p.Ile2603Asn
XM_011533337.1:c.7781T>A	XP_011531639.1:p.Ile2594Asn
XM_011533338.1:c.7748T>A	XP_011531640.1:p.Ile2583Asn
XM_011533339.1:c.7808T>A	XP_011531641.1:p.Ile2603Asn
XR_940369.1:n.7844T>A
XR_940370.1:n.7844T>A
XR_940371.1:n.7844T>A
XR_940372.1:n.7818T>A
XM_017005688.1:c.7721T>A	XP_016861177.1:p.Ile2574Asn
XM_017005689.1:c.7781T>A	XP_016861178.1:p.Ile2594Asn
XR_001740003.1:n.7817T>A
XR_001740004.1:n.7817T>A
XR_001740005.1:n.7817T>A
XR_001740006.1:n.7791T>A
NM_000094.4:c.7781T>A MANE Select	NP_000085.1:p.Ile2594Asn