Canonical Allele Identifier: CA2378042

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2141919
• ClinVar RCV Id: RCV003058792 ; RCV003074072
• dbSNP Id: rs574446079
• ExAC: 3:48603724 G / A
• gnomAD v2: 3-48603724-G-A
• gnomAD v3: 3-48566291-G-A
• gnomAD v4: 3-48566291-G-A
• COSMIC: COSM1202028
• MyVariant Identifiers: chr3:g.48603724G>A (hg19) ; chr3:g.48566291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566291G>A , CM000665.2:g.48566291G>A	GRCh38
NC_000003.11:g.48603724G>A , CM000665.1:g.48603724G>A	GRCh37
NC_000003.10:g.48578728G>A	NCBI36
NG_007065.1:g.33962C>T , LRG_286:g.33962C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8383C>T MANE Select	ENSP00000506558.1:p.Arg2795Cys
ENST00000328333.12:c.8383C>T	ENSP00000332371.8:p.Arg2795Cys
ENST00000487017.5:n.5022C>T
NM_000094.3:c.8383C>T , LRG_286t1:c.8383C>T	NP_000085.1:p.Arg2795Cys
XM_011533336.1:c.8410C>T	XP_011531638.1:p.Arg2804Cys
XM_011533337.1:c.8383C>T	XP_011531639.1:p.Arg2795Cys
XM_011533338.1:c.8350C>T	XP_011531640.1:p.Arg2784Cys
XR_940369.1:n.8446C>T
XR_940370.1:n.8446C>T
XR_940371.1:n.8446C>T
XM_017005688.1:c.8323C>T	XP_016861177.1:p.Arg2775Cys
XR_001740003.1:n.8419C>T
XR_001740004.1:n.8419C>T
XR_001740005.1:n.8419C>T
NM_000094.4:c.8383C>T MANE Select	NP_000085.1:p.Arg2795Cys