Canonical Allele Identifier: CA352636350

Gene: COL7A1

Linked Data

• dbSNP Id: rs138263686
• gnomAD v3: 3-48566290-C-A
• gnomAD v4: 3-48566290-C-A
• MyVariant Identifiers: chr3:g.48603723C>A (hg19) ; chr3:g.48566290C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8384G>T MANE Select	ENSP00000506558.1:p.Arg2795Leu
ENST00000328333.12:c.8384G>T	ENSP00000332371.8:p.Arg2795Leu
ENST00000487017.5:n.5023G>T
NM_000094.3:c.8384G>T , LRG_286t1:c.8384G>T	NP_000085.1:p.Arg2795Leu
XM_011533336.1:c.8411G>T	XP_011531638.1:p.Arg2804Leu
XM_011533337.1:c.8384G>T	XP_011531639.1:p.Arg2795Leu
XM_011533338.1:c.8351G>T	XP_011531640.1:p.Arg2784Leu
XR_940369.1:n.8447G>T
XR_940370.1:n.8447G>T
XR_940371.1:n.8447G>T
XM_017005688.1:c.8324G>T	XP_016861177.1:p.Arg2775Leu
XR_001740003.1:n.8420G>T
XR_001740004.1:n.8420G>T
XR_001740005.1:n.8420G>T
NM_000094.4:c.8384G>T MANE Select	NP_000085.1:p.Arg2795Leu