Canonical Allele Identifier: CA352640804

Gene: COL7A1

Linked Data

• dbSNP Id: rs1057518863
• MyVariant Identifiers: chr3:g.48604623C>A (hg19) ; chr3:g.48567190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567190C>A , CM000665.2:g.48567190C>A	GRCh38
NC_000003.11:g.48604623C>A , CM000665.1:g.48604623C>A	GRCh37
NC_000003.10:g.48579627C>A	NCBI36
NG_007065.1:g.33063G>T , LRG_286:g.33063G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8047G>T MANE Select	ENSP00000506558.1:p.Gly2683Cys
ENST00000328333.12:c.8047G>T	ENSP00000332371.8:p.Gly2683Cys
ENST00000474432.1:n.174G>T
ENST00000487017.5:n.4686G>T
NM_000094.3:c.8047G>T , LRG_286t1:c.8047G>T	NP_000085.1:p.Gly2683Cys
XM_011533336.1:c.8074G>T	XP_011531638.1:p.Gly2692Cys
XM_011533337.1:c.8047G>T	XP_011531639.1:p.Gly2683Cys
XM_011533338.1:c.8014G>T	XP_011531640.1:p.Gly2672Cys
XR_940369.1:n.8110G>T
XR_940370.1:n.8110G>T
XR_940371.1:n.8110G>T
XM_017005688.1:c.7987G>T	XP_016861177.1:p.Gly2663Cys
XR_001740003.1:n.8083G>T
XR_001740004.1:n.8083G>T
XR_001740005.1:n.8083G>T
NM_000094.4:c.8047G>T MANE Select	NP_000085.1:p.Gly2683Cys