Canonical Allele Identifier: CA2379143
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345823
dbSNP Id: rs191559835

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48575132G>A , CM000665.2:g.48575132G>A GRCh38
NC_000003.11:g.48612565G>A , CM000665.1:g.48612565G>A GRCh37
NC_000003.10:g.48587569G>A NCBI36
NG_007065.1:g.25121C>T , LRG_286:g.25121C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.6217-6C>T MANE Select ENSP00000506558.1:p.=
ENST00000328333.12:c.6217-6C>T ENSP00000332371.8:p.=
ENST00000487017.5:n.2134-6C>T
NM_000094.3:c.6217-6C>T , LRG_286t1:c.6217-6C>T NP_000085.1:p.=
XM_011533336.1:c.6244-6C>T XP_011531638.1:p.=
XM_011533337.1:c.6217-6C>T XP_011531639.1:p.=
XM_011533338.1:c.6244-6C>T XP_011531640.1:p.=
XM_011533339.1:c.6244-6C>T XP_011531641.1:p.=
XM_011533340.1:c.6244-6C>T XP_011531642.1:p.=
XM_011533341.1:c.6244-6C>T XP_011531643.1:p.=
XM_011533342.1:c.6244-6C>T XP_011531644.1:p.=
XR_940369.1:n.6280-6C>T
XR_940370.1:n.6280-6C>T
XR_940371.1:n.6280-6C>T
XR_940372.1:n.6280-6C>T
XR_940373.1:n.6280-6C>T
XR_940374.1:n.6280-6C>T
XR_940375.1:n.6218-6C>T
XM_017005688.1:c.6217-6C>T XP_016861177.1:p.=
XM_017005689.1:c.6217-6C>T XP_016861178.1:p.=
XM_017005690.1:c.6217-6C>T XP_016861179.1:p.=
XM_017005691.1:c.6217-6C>T XP_016861180.1:p.=
XM_017005692.1:c.6217-6C>T XP_016861181.1:p.=
XR_001740003.1:n.6253-6C>T
XR_001740004.1:n.6253-6C>T
XR_001740005.1:n.6253-6C>T
XR_001740006.1:n.6253-6C>T
XR_001740007.1:n.6253-6C>T
XR_001740008.1:n.6253-6C>T
XR_001740009.1:n.6191-6C>T
NM_000094.4:c.6217-6C>T MANE Select NP_000085.1:p.=