Canonical Allele Identifier: CA352640975

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043662980
• gnomAD v3: 3-48567585-T-G
• gnomAD v4: 3-48567585-T-G
• MyVariant Identifiers: chr3:g.48605018T>G (hg19) ; chr3:g.48567585T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567585T>G , CM000665.2:g.48567585T>G	GRCh38
NC_000003.11:g.48605018T>G , CM000665.1:g.48605018T>G	GRCh37
NC_000003.10:g.48580022T>G	NCBI36
NG_007065.1:g.32668A>C , LRG_286:g.32668A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8035A>C MANE Select	ENSP00000506558.1:p.Ile2679Leu
ENST00000328333.12:c.8035A>C	ENSP00000332371.8:p.Ile2679Leu
ENST00000487017.5:n.4674A>C
NM_000094.3:c.8035A>C , LRG_286t1:c.8035A>C	NP_000085.1:p.Ile2679Leu
XM_011533336.1:c.8062A>C	XP_011531638.1:p.Ile2688Leu
XM_011533337.1:c.8035A>C	XP_011531639.1:p.Ile2679Leu
XM_011533338.1:c.8002A>C	XP_011531640.1:p.Ile2668Leu
XR_940369.1:n.8098A>C
XR_940370.1:n.8098A>C
XR_940371.1:n.8098A>C
XM_017005688.1:c.7975A>C	XP_016861177.1:p.Ile2659Leu
XR_001740003.1:n.8071A>C
XR_001740004.1:n.8071A>C
XR_001740005.1:n.8071A>C
NM_000094.4:c.8035A>C MANE Select	NP_000085.1:p.Ile2679Leu