Canonical Allele Identifier: CA433534072

Gene: COL7A1

Linked Data

• dbSNP Id: rs1425753232
• MyVariant Identifiers: chr3:g.48608084T>A (hg19) ; chr3:g.48570651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570651T>A , CM000665.2:g.48570651T>A	GRCh38
NC_000003.11:g.48608084T>A , CM000665.1:g.48608084T>A	GRCh37
NC_000003.10:g.48583088T>A	NCBI36
NG_007065.1:g.29602A>T , LRG_286:g.29602A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7332A>T MANE Select	ENSP00000506558.1:p.Pro2444=
ENST00000328333.12:c.7332A>T	ENSP00000332371.8:p.Pro2444=
ENST00000422991.1:c.327A>T	ENSP00000391608.1:p.Pro109=
ENST00000467985.1:n.82A>T
ENST00000487017.5:n.3971A>T
NM_000094.3:c.7332A>T , LRG_286t1:c.7332A>T	NP_000085.1:p.Pro2444=
XM_011533336.1:c.7359A>T	XP_011531638.1:p.Pro2453=
XM_011533337.1:c.7332A>T	XP_011531639.1:p.Pro2444=
XM_011533338.1:c.7359A>T	XP_011531640.1:p.Pro2453=
XM_011533339.1:c.7359A>T	XP_011531641.1:p.Pro2453=
XM_011533340.1:c.7359A>T	XP_011531642.1:p.Pro2453=
XM_011533341.1:c.7333A>T	XP_011531643.1:p.Thr2445Ser
XM_011533342.1:c.7333A>T	XP_011531644.1:p.Thr2445Ser
XR_940369.1:n.7395A>T
XR_940370.1:n.7395A>T
XR_940371.1:n.7395A>T
XR_940372.1:n.7369A>T
XM_017005688.1:c.7332A>T	XP_016861177.1:p.Pro2444=
XM_017005689.1:c.7332A>T	XP_016861178.1:p.Pro2444=
XM_017005690.1:c.7332A>T	XP_016861179.1:p.Pro2444=
XM_017005691.1:c.7306A>T	XP_016861180.1:p.Thr2436Ser
XM_017005692.1:c.7306A>T	XP_016861181.1:p.Thr2436Ser
XR_001740003.1:n.7368A>T
XR_001740004.1:n.7368A>T
XR_001740005.1:n.7368A>T
XR_001740006.1:n.7342A>T
NM_000094.4:c.7332A>T MANE Select	NP_000085.1:p.Pro2444=