Canonical Allele Identifier: CA352643085

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48606254G>C (hg19) ; chr3:g.48568821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568821G>C , CM000665.2:g.48568821G>C	GRCh38
NC_000003.11:g.48606254G>C , CM000665.1:g.48606254G>C	GRCh37
NC_000003.10:g.48581258G>C	NCBI36
NG_007065.1:g.31432C>G , LRG_286:g.31432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7721C>G MANE Select	ENSP00000506558.1:p.Ala2574Gly
ENST00000328333.12:c.7721C>G	ENSP00000332371.8:p.Ala2574Gly
ENST00000459756.5:n.544C>G
ENST00000467985.1:n.567C>G
ENST00000487017.5:n.4360C>G
NM_000094.3:c.7721C>G , LRG_286t1:c.7721C>G	NP_000085.1:p.Ala2574Gly
XM_011533336.1:c.7748C>G	XP_011531638.1:p.Ala2583Gly
XM_011533337.1:c.7721C>G	XP_011531639.1:p.Ala2574Gly
XM_011533338.1:c.7688C>G	XP_011531640.1:p.Ala2563Gly
XM_011533339.1:c.7748C>G	XP_011531641.1:p.Ala2583Gly
XR_940369.1:n.7784C>G
XR_940370.1:n.7784C>G
XR_940371.1:n.7784C>G
XR_940372.1:n.7758C>G
XM_017005688.1:c.7661C>G	XP_016861177.1:p.Ala2554Gly
XM_017005689.1:c.7721C>G	XP_016861178.1:p.Ala2574Gly
XR_001740003.1:n.7757C>G
XR_001740004.1:n.7757C>G
XR_001740005.1:n.7757C>G
XR_001740006.1:n.7731C>G
NM_000094.4:c.7721C>G MANE Select	NP_000085.1:p.Ala2574Gly