Canonical Allele Identifier: CA352645820

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607599G>T (hg19) ; chr3:g.48570166G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7453C>A MANE Select	ENSP00000506558.1:p.Arg2485Ser
ENST00000328333.12:c.7453C>A	ENSP00000332371.8:p.Arg2485Ser
ENST00000422991.1:c.448C>A	ENSP00000391608.1:p.Arg150Ser
ENST00000459756.5:n.276C>A
ENST00000467985.1:n.299C>A
ENST00000487017.5:n.4092C>A
NM_000094.3:c.7453C>A , LRG_286t1:c.7453C>A	NP_000085.1:p.Arg2485Ser
XM_011533336.1:c.7480C>A	XP_011531638.1:p.Arg2494Ser
XM_011533337.1:c.7453C>A	XP_011531639.1:p.Arg2485Ser
XM_011533338.1:c.7420C>A	XP_011531640.1:p.Arg2474Ser
XM_011533339.1:c.7480C>A	XP_011531641.1:p.Arg2494Ser
XM_011533340.1:c.*54C>A	XP_011531642.1:n.*54C>A
XM_011533341.1:c.*40C>A	XP_011531643.1:n.*40C>A
XM_011533342.1:c.*8C>A	XP_011531644.1:n.*8C>A
XR_940369.1:n.7516C>A
XR_940370.1:n.7516C>A
XR_940371.1:n.7516C>A
XR_940372.1:n.7490C>A
XM_017005688.1:c.7393C>A	XP_016861177.1:p.Arg2465Ser
XM_017005689.1:c.7453C>A	XP_016861178.1:p.Arg2485Ser
XM_017005690.1:c.*54C>A	XP_016861179.1:n.*54C>A
XM_017005691.1:c.*40C>A	XP_016861180.1:n.*40C>A
XM_017005692.1:c.*8C>A	XP_016861181.1:n.*8C>A
XR_001740003.1:n.7489C>A
XR_001740004.1:n.7489C>A
XR_001740005.1:n.7489C>A
XR_001740006.1:n.7463C>A
NM_000094.4:c.7453C>A MANE Select	NP_000085.1:p.Arg2485Ser