Canonical Allele Identifier: CA433533970
Gene: COL7A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.48607741C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570308C>G , CM000665.2:g.48570308C>G GRCh38
NC_000003.11:g.48607741C>G , CM000665.1:g.48607741C>G GRCh37
NC_000003.10:g.48582745C>G NCBI36
NG_007065.1:g.29945G>C , LRG_286:g.29945G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7407G>C MANE Select ENSP00000506558.1:p.Gly2469=
ENST00000328333.12:c.7407G>C ENSP00000332371.8:p.Gly2469=
ENST00000422991.1:c.402G>C ENSP00000391608.1:p.Gly134=
ENST00000459756.5:n.134G>C
ENST00000467985.1:n.157G>C
ENST00000487017.5:n.4046G>C
NM_000094.3:c.7407G>C , LRG_286t1:c.7407G>C NP_000085.1:p.Gly2469=
XM_011533336.1:c.7434G>C XP_011531638.1:p.Gly2478=
XM_011533337.1:c.7407G>C XP_011531639.1:p.Gly2469=
XM_011533338.1:c.7408-130G>C XP_011531640.1:n.7408-130G>C
XM_011533339.1:c.7434G>C XP_011531641.1:p.Gly2478=
XM_011533340.1:c.7408-56G>C XP_011531642.1:n.7408-56G>C
XM_011533341.1:c.7382-56G>C XP_011531643.1:n.7382-56G>C
XM_011533342.1:c.7382-130G>C XP_011531644.1:n.7382-130G>C
XR_940369.1:n.7470G>C
XR_940370.1:n.7470G>C
XR_940371.1:n.7470G>C
XR_940372.1:n.7444G>C
XM_017005688.1:c.7381-130G>C XP_016861177.1:n.7381-130G>C
XM_017005689.1:c.7407G>C XP_016861178.1:p.Gly2469=
XM_017005690.1:c.7381-56G>C XP_016861179.1:n.7381-56G>C
XM_017005691.1:c.7355-56G>C XP_016861180.1:n.7355-56G>C
XM_017005692.1:c.7355-130G>C XP_016861181.1:n.7355-130G>C
XR_001740003.1:n.7443G>C
XR_001740004.1:n.7443G>C
XR_001740005.1:n.7443G>C
XR_001740006.1:n.7417G>C
NM_000094.4:c.7407G>C MANE Select NP_000085.1:p.Gly2469=