Canonical Allele Identifier: CA433531993

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48602901A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565468A>G , CM000665.2:g.48565468A>G	GRCh38
NC_000003.11:g.48602901A>G , CM000665.1:g.48602901A>G	GRCh37
NC_000003.10:g.48577905A>G	NCBI36
NG_007065.1:g.34785T>C , LRG_286:g.34785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8469T>C MANE Select	ENSP00000506558.1:p.Thr2823=
ENST00000328333.12:c.8469T>C	ENSP00000332371.8:p.Thr2823=
ENST00000487017.5:n.5108T>C
NM_000094.3:c.8469T>C , LRG_286t1:c.8469T>C	NP_000085.1:p.Thr2823=
XM_011533336.1:c.8496T>C	XP_011531638.1:p.Thr2832=
XM_011533337.1:c.8469T>C	XP_011531639.1:p.Thr2823=
XM_011533338.1:c.8436T>C	XP_011531640.1:p.Thr2812=
XR_940369.1:n.8532T>C
XR_940370.1:n.8532T>C
XR_940371.1:n.8532T>C
XM_017005688.1:c.8409T>C	XP_016861177.1:p.Thr2803=
XR_001740003.1:n.8505T>C
XR_001740004.1:n.8505T>C
XR_001740005.1:n.8505T>C
NM_000094.4:c.8469T>C MANE Select	NP_000085.1:p.Thr2823=