Canonical Allele Identifier: CA352641036

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605027C>A (hg19) ; chr3:g.48567594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567594C>A , CM000665.2:g.48567594C>A	GRCh38
NC_000003.11:g.48605027C>A , CM000665.1:g.48605027C>A	GRCh37
NC_000003.10:g.48580031C>A	NCBI36
NG_007065.1:g.32659G>T , LRG_286:g.32659G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8026G>T MANE Select	ENSP00000506558.1:p.Glu2676Ter
ENST00000328333.12:c.8026G>T	ENSP00000332371.8:p.Glu2676Ter
ENST00000487017.5:n.4665G>T
NM_000094.3:c.8026G>T , LRG_286t1:c.8026G>T	NP_000085.1:p.Glu2676Ter
XM_011533336.1:c.8053G>T	XP_011531638.1:p.Glu2685Ter
XM_011533337.1:c.8026G>T	XP_011531639.1:p.Glu2676Ter
XM_011533338.1:c.7993G>T	XP_011531640.1:p.Glu2665Ter
XR_940369.1:n.8089G>T
XR_940370.1:n.8089G>T
XR_940371.1:n.8089G>T
XM_017005688.1:c.7966G>T	XP_016861177.1:p.Glu2656Ter
XR_001740003.1:n.8062G>T
XR_001740004.1:n.8062G>T
XR_001740005.1:n.8062G>T
NM_000094.4:c.8026G>T MANE Select	NP_000085.1:p.Glu2676Ter