Canonical Allele Identifier: CA257962
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17459
dbSNP Id: rs121912852

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570304G>A , CM000665.2:g.48570304G>A GRCh38
NC_000003.11:g.48607737G>A , CM000665.1:g.48607737G>A GRCh37
NC_000003.10:g.48582741G>A NCBI36
NG_007065.1:g.29949C>T , LRG_286:g.29949C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7411C>T MANE Select ENSP00000506558.1:p.Arg2471Ter
ENST00000328333.12:c.7411C>T ENSP00000332371.8:p.Arg2471Ter
ENST00000422991.1:c.406C>T ENSP00000391608.1:p.Arg136Ter
ENST00000459756.5:n.138C>T
ENST00000467985.1:n.161C>T
ENST00000487017.5:n.4050C>T
NM_000094.3:c.7411C>T , LRG_286t1:c.7411C>T NP_000085.1:p.Arg2471Ter
XM_011533336.1:c.7438C>T XP_011531638.1:p.Arg2480Ter
XM_011533337.1:c.7411C>T XP_011531639.1:p.Arg2471Ter
XM_011533338.1:c.7408-126C>T XP_011531640.1:p.=
XM_011533339.1:c.7438C>T XP_011531641.1:p.Arg2480Ter
XM_011533340.1:c.7408-52C>T XP_011531642.1:p.=
XM_011533341.1:c.7382-52C>T XP_011531643.1:p.=
XM_011533342.1:c.7382-126C>T XP_011531644.1:p.=
XR_940369.1:n.7474C>T
XR_940370.1:n.7474C>T
XR_940371.1:n.7474C>T
XR_940372.1:n.7448C>T
XM_017005688.1:c.7381-126C>T XP_016861177.1:p.=
XM_017005689.1:c.7411C>T XP_016861178.1:p.Arg2471Ter
XM_017005690.1:c.7381-52C>T XP_016861179.1:p.=
XM_017005691.1:c.7355-52C>T XP_016861180.1:p.=
XM_017005692.1:c.7355-126C>T XP_016861181.1:p.=
XR_001740003.1:n.7447C>T
XR_001740004.1:n.7447C>T
XR_001740005.1:n.7447C>T
XR_001740006.1:n.7421C>T
NM_000094.4:c.7411C>T MANE Select NP_000085.1:p.Arg2471Ter