Canonical Allele Identifier: CA352636352

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566290-C-G
• MyVariant Identifiers: chr3:g.48603723C>G (hg19) ; chr3:g.48566290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566290C>G , CM000665.2:g.48566290C>G	GRCh38
NC_000003.11:g.48603723C>G , CM000665.1:g.48603723C>G	GRCh37
NC_000003.10:g.48578727C>G	NCBI36
NG_007065.1:g.33963G>C , LRG_286:g.33963G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8384G>C MANE Select	ENSP00000506558.1:p.Arg2795Pro
ENST00000328333.12:c.8384G>C	ENSP00000332371.8:p.Arg2795Pro
ENST00000487017.5:n.5023G>C
NM_000094.3:c.8384G>C , LRG_286t1:c.8384G>C	NP_000085.1:p.Arg2795Pro
XM_011533336.1:c.8411G>C	XP_011531638.1:p.Arg2804Pro
XM_011533337.1:c.8384G>C	XP_011531639.1:p.Arg2795Pro
XM_011533338.1:c.8351G>C	XP_011531640.1:p.Arg2784Pro
XR_940369.1:n.8447G>C
XR_940370.1:n.8447G>C
XR_940371.1:n.8447G>C
XM_017005688.1:c.8324G>C	XP_016861177.1:p.Arg2775Pro
XR_001740003.1:n.8420G>C
XR_001740004.1:n.8420G>C
XR_001740005.1:n.8420G>C
NM_000094.4:c.8384G>C MANE Select	NP_000085.1:p.Arg2795Pro