Canonical Allele Identifier: CA352634982

Gene: COL7A1

Linked Data

• COSMIC: COSM3594958
• MyVariant Identifiers: chr3:g.48602893G>C (hg19) ; chr3:g.48565460G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565460G>C , CM000665.2:g.48565460G>C	GRCh38
NC_000003.11:g.48602893G>C , CM000665.1:g.48602893G>C	GRCh37
NC_000003.10:g.48577897G>C	NCBI36
NG_007065.1:g.34793C>G , LRG_286:g.34793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8477C>G MANE Select	ENSP00000506558.1:p.Ser2826Cys
ENST00000328333.12:c.8477C>G	ENSP00000332371.8:p.Ser2826Cys
ENST00000487017.5:n.5116C>G
NM_000094.3:c.8477C>G , LRG_286t1:c.8477C>G	NP_000085.1:p.Ser2826Cys
XM_011533336.1:c.8504C>G	XP_011531638.1:p.Ser2835Cys
XM_011533337.1:c.8477C>G	XP_011531639.1:p.Ser2826Cys
XM_011533338.1:c.8444C>G	XP_011531640.1:p.Ser2815Cys
XR_940369.1:n.8540C>G
XR_940370.1:n.8540C>G
XR_940371.1:n.8540C>G
XM_017005688.1:c.8417C>G	XP_016861177.1:p.Ser2806Cys
XR_001740003.1:n.8513C>G
XR_001740004.1:n.8513C>G
XR_001740005.1:n.8513C>G
NM_000094.4:c.8477C>G MANE Select	NP_000085.1:p.Ser2826Cys