Canonical Allele Identifier: CA2380554
Gene: COL7A1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.48586607C>T
GRCh37 chr3:g.48624040C>T
Revel Score:
ENST00000328333 0.158
ENST00000454817 0.158
gnomAD v2:
3:48624040 C / T
gnomAD v3:
3:48586607 C / T
gnomAD v4:
chr3-48586607-C-T
Joint Max Group AF 0.00413058 (NFE)
Genomes Max Group AF 0.0041531 (NFE)
Exomes Max Group AF 0.00410647 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48586607C>T , CM000665.2:g.48586607C>T GRCh38
NC_000003.11:g.48624040C>T , CM000665.1:g.48624040C>T GRCh37
NC_000003.10:g.48599044C>T NCBI36
NG_007065.1:g.13646G>A , LRG_286:g.13646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.3359G>A MANE Select ENSP00000506558.1:p.Arg1120Lys
ENST00000328333.12:c.3359G>A ENSP00000332371.8:p.Arg1120Lys
NM_000094.3:c.3359G>A , LRG_286t1:c.3359G>A NP_000085.1:p.Arg1120Lys
XM_011533336.1:c.3386G>A XP_011531638.1:p.Arg1129Lys
XM_011533337.1:c.3359G>A XP_011531639.1:p.Arg1120Lys
XM_011533338.1:c.3386G>A XP_011531640.1:p.Arg1129Lys
XM_011533339.1:c.3386G>A XP_011531641.1:p.Arg1129Lys
XM_011533340.1:c.3386G>A XP_011531642.1:p.Arg1129Lys
XM_011533341.1:c.3386G>A XP_011531643.1:p.Arg1129Lys
XM_011533342.1:c.3386G>A XP_011531644.1:p.Arg1129Lys
XR_940369.1:n.3422G>A
XR_940370.1:n.3422G>A
XR_940371.1:n.3422G>A
XR_940372.1:n.3422G>A
XR_940373.1:n.3422G>A
XR_940374.1:n.3422G>A
XR_940375.1:n.3422G>A
XM_017005688.1:c.3359G>A XP_016861177.1:p.Arg1120Lys
XM_017005689.1:c.3359G>A XP_016861178.1:p.Arg1120Lys
XM_017005690.1:c.3359G>A XP_016861179.1:p.Arg1120Lys
XM_017005691.1:c.3359G>A XP_016861180.1:p.Arg1120Lys
XM_017005692.1:c.3359G>A XP_016861181.1:p.Arg1120Lys
XR_001740003.1:n.3395G>A
XR_001740004.1:n.3395G>A
XR_001740005.1:n.3395G>A
XR_001740006.1:n.3395G>A
XR_001740007.1:n.3395G>A
XR_001740008.1:n.3395G>A
XR_001740009.1:n.3395G>A
NM_000094.4:c.3359G>A MANE Select NP_000085.1:p.Arg1120Lys
Search 100 bp 5'
Search 100 bp 3'