Canonical Allele Identifier: CA352645862

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607604T>G (hg19) ; chr3:g.48570171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570171T>G , CM000665.2:g.48570171T>G	GRCh38
NC_000003.11:g.48607604T>G , CM000665.1:g.48607604T>G	GRCh37
NC_000003.10:g.48582608T>G	NCBI36
NG_007065.1:g.30082A>C , LRG_286:g.30082A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7448A>C MANE Select	ENSP00000506558.1:p.Asp2483Ala
ENST00000328333.12:c.7448A>C	ENSP00000332371.8:p.Asp2483Ala
ENST00000422991.1:c.443A>C	ENSP00000391608.1:p.Asp148Ala
ENST00000459756.5:n.271A>C
ENST00000467985.1:n.294A>C
ENST00000487017.5:n.4087A>C
NM_000094.3:c.7448A>C , LRG_286t1:c.7448A>C	NP_000085.1:p.Asp2483Ala
XM_011533336.1:c.7475A>C	XP_011531638.1:p.Asp2492Ala
XM_011533337.1:c.7448A>C	XP_011531639.1:p.Asp2483Ala
XM_011533338.1:c.7415A>C	XP_011531640.1:p.Asp2472Ala
XM_011533339.1:c.7475A>C	XP_011531641.1:p.Asp2492Ala
XM_011533340.1:c.*49A>C	XP_011531642.1:n.*49A>C
XM_011533341.1:c.*35A>C	XP_011531643.1:n.*35A>C
XM_011533342.1:c.*3A>C	XP_011531644.1:n.*3A>C
XR_940369.1:n.7511A>C
XR_940370.1:n.7511A>C
XR_940371.1:n.7511A>C
XR_940372.1:n.7485A>C
XM_017005688.1:c.7388A>C	XP_016861177.1:p.Asp2463Ala
XM_017005689.1:c.7448A>C	XP_016861178.1:p.Asp2483Ala
XM_017005690.1:c.*49A>C	XP_016861179.1:n.*49A>C
XM_017005691.1:c.*35A>C	XP_016861180.1:n.*35A>C
XM_017005692.1:c.*3A>C	XP_016861181.1:n.*3A>C
XR_001740003.1:n.7484A>C
XR_001740004.1:n.7484A>C
XR_001740005.1:n.7484A>C
XR_001740006.1:n.7458A>C
NM_000094.4:c.7448A>C MANE Select	NP_000085.1:p.Asp2483Ala