Canonical Allele Identifier: CA433532891

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605277T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567844T>G , CM000665.2:g.48567844T>G	GRCh38
NC_000003.11:g.48605277T>G , CM000665.1:g.48605277T>G	GRCh37
NC_000003.10:g.48580281T>G	NCBI36
NG_007065.1:g.32409A>C , LRG_286:g.32409A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7923A>C MANE Select	ENSP00000506558.1:p.Gly2641=
ENST00000328333.12:c.7923A>C	ENSP00000332371.8:p.Gly2641=
ENST00000459756.5:n.746A>C
ENST00000487017.5:n.4562A>C
NM_000094.3:c.7923A>C , LRG_286t1:c.7923A>C	NP_000085.1:p.Gly2641=
XM_011533336.1:c.7950A>C	XP_011531638.1:p.Gly2650=
XM_011533337.1:c.7923A>C	XP_011531639.1:p.Gly2641=
XM_011533338.1:c.7890A>C	XP_011531640.1:p.Gly2630=
XR_940369.1:n.7986A>C
XR_940370.1:n.7986A>C
XR_940371.1:n.7986A>C
XM_017005688.1:c.7863A>C	XP_016861177.1:p.Gly2621=
XR_001740003.1:n.7959A>C
XR_001740004.1:n.7959A>C
XR_001740005.1:n.7959A>C
NM_000094.4:c.7923A>C MANE Select	NP_000085.1:p.Gly2641=