Canonical Allele Identifier: CA2378504

Gene: COL7A1

Linked Data

• dbSNP Id: rs373718447
• ExAC: 3:48607681 T / A
• MyVariant Identifiers: chr3:g.48607681T>A (hg19) ; chr3:g.48570248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570248T>A , CM000665.2:g.48570248T>A	GRCh38
NC_000003.11:g.48607681T>A , CM000665.1:g.48607681T>A	GRCh37
NC_000003.10:g.48582685T>A	NCBI36
NG_007065.1:g.30005A>T , LRG_286:g.30005A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+27A>T MANE Select	ENSP00000506558.1:n.7440+27A>T
ENST00000328333.12:c.7440+27A>T	ENSP00000332371.8:n.7440+27A>T
ENST00000422991.1:c.435+27A>T	ENSP00000391608.1:n.435+27A>T
ENST00000459756.5:n.194A>T
ENST00000467985.1:n.217A>T
ENST00000487017.5:n.4079+27A>T
NM_000094.3:c.7440+27A>T , LRG_286t1:c.7440+27A>T	NP_000085.1:n.7440+27A>T
XM_011533336.1:c.7467+27A>T	XP_011531638.1:n.7467+27A>T
XM_011533337.1:c.7440+27A>T	XP_011531639.1:n.7440+27A>T
XM_011533338.1:c.7408-70A>T	XP_011531640.1:n.7408-70A>T
XM_011533339.1:c.7467+27A>T	XP_011531641.1:n.7467+27A>T
XM_011533340.1:c.7412A>T	XP_011531642.1:p.Asn2471Ile
XM_011533341.1:c.7386A>T	XP_011531643.1:p.Glu2462Asp
XM_011533342.1:c.7382-70A>T	XP_011531644.1:n.7382-70A>T
XR_940369.1:n.7503+27A>T
XR_940370.1:n.7503+27A>T
XR_940371.1:n.7503+27A>T
XR_940372.1:n.7477+27A>T
XM_017005688.1:c.7381-70A>T	XP_016861177.1:n.7381-70A>T
XM_017005689.1:c.7440+27A>T	XP_016861178.1:n.7440+27A>T
XM_017005690.1:c.7385A>T	XP_016861179.1:p.Asn2462Ile
XM_017005691.1:c.7359A>T	XP_016861180.1:p.Glu2453Asp
XM_017005692.1:c.7355-70A>T	XP_016861181.1:n.7355-70A>T
XR_001740003.1:n.7476+27A>T
XR_001740004.1:n.7476+27A>T
XR_001740005.1:n.7476+27A>T
XR_001740006.1:n.7450+27A>T
NM_000094.4:c.7440+27A>T MANE Select	NP_000085.1:n.7440+27A>T