Canonical Allele Identifier: CA73974056

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2157811
• ClinVar RCV Id: RCV003078288
• dbSNP Id: rs868422300
• gnomAD v2: 3-48607599-G-A
• gnomAD v3: 3-48570166-G-A
• gnomAD v4: 3-48570166-G-A
• COSMIC: COSM271178
• MyVariant Identifiers: chr3:g.48607599G>A (hg19) ; chr3:g.48570166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570166G>A , CM000665.2:g.48570166G>A	GRCh38
NC_000003.11:g.48607599G>A , CM000665.1:g.48607599G>A	GRCh37
NC_000003.10:g.48582603G>A	NCBI36
NG_007065.1:g.30087C>T , LRG_286:g.30087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7453C>T MANE Select	ENSP00000506558.1:p.Arg2485Cys
ENST00000328333.12:c.7453C>T	ENSP00000332371.8:p.Arg2485Cys
ENST00000422991.1:c.448C>T	ENSP00000391608.1:p.Arg150Cys
ENST00000459756.5:n.276C>T
ENST00000467985.1:n.299C>T
ENST00000487017.5:n.4092C>T
NM_000094.3:c.7453C>T , LRG_286t1:c.7453C>T	NP_000085.1:p.Arg2485Cys
XM_011533336.1:c.7480C>T	XP_011531638.1:p.Arg2494Cys
XM_011533337.1:c.7453C>T	XP_011531639.1:p.Arg2485Cys
XM_011533338.1:c.7420C>T	XP_011531640.1:p.Arg2474Cys
XM_011533339.1:c.7480C>T	XP_011531641.1:p.Arg2494Cys
XM_011533340.1:c.*54C>T	XP_011531642.1:n.*54C>T
XM_011533341.1:c.*40C>T	XP_011531643.1:n.*40C>T
XM_011533342.1:c.*8C>T	XP_011531644.1:n.*8C>T
XR_940369.1:n.7516C>T
XR_940370.1:n.7516C>T
XR_940371.1:n.7516C>T
XR_940372.1:n.7490C>T
XM_017005688.1:c.7393C>T	XP_016861177.1:p.Arg2465Cys
XM_017005689.1:c.7453C>T	XP_016861178.1:p.Arg2485Cys
XM_017005690.1:c.*54C>T	XP_016861179.1:n.*54C>T
XM_017005691.1:c.*40C>T	XP_016861180.1:n.*40C>T
XM_017005692.1:c.*8C>T	XP_016861181.1:n.*8C>T
XR_001740003.1:n.7489C>T
XR_001740004.1:n.7489C>T
XR_001740005.1:n.7489C>T
XR_001740006.1:n.7463C>T
NM_000094.4:c.7453C>T MANE Select	NP_000085.1:p.Arg2485Cys