Canonical Allele Identifier: CA2378232

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1123291
• ClinVar RCV Id: RCV001454281
• dbSNP Id: rs758039219
• ExAC: 3:48605173 G / T
• gnomAD v2: 3-48605173-G-T
• gnomAD v4: 3-48567740-G-T
• MyVariant Identifiers: chr3:g.48605173G>T (hg19) ; chr3:g.48567740G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567740G>T , CM000665.2:g.48567740G>T	GRCh38
NC_000003.11:g.48605173G>T , CM000665.1:g.48605173G>T	GRCh37
NC_000003.10:g.48580177G>T	NCBI36
NG_007065.1:g.32513C>A , LRG_286:g.32513C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7953C>A MANE Select	ENSP00000506558.1:p.Arg2651=
ENST00000328333.12:c.7953C>A	ENSP00000332371.8:p.Arg2651=
ENST00000459756.5:n.776C>A
ENST00000487017.5:n.4592C>A
NM_000094.3:c.7953C>A , LRG_286t1:c.7953C>A	NP_000085.1:p.Arg2651=
XM_011533336.1:c.7980C>A	XP_011531638.1:p.Arg2660=
XM_011533337.1:c.7953C>A	XP_011531639.1:p.Arg2651=
XM_011533338.1:c.7920C>A	XP_011531640.1:p.Arg2640=
XR_940369.1:n.8016C>A
XR_940370.1:n.8016C>A
XR_940371.1:n.8016C>A
XM_017005688.1:c.7893C>A	XP_016861177.1:p.Arg2631=
XR_001740003.1:n.7989C>A
XR_001740004.1:n.7989C>A
XR_001740005.1:n.7989C>A
NM_000094.4:c.7953C>A MANE Select	NP_000085.1:p.Arg2651=