Canonical Allele Identifier: CA2379367
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs770425540
gnomAD v2: 3-48613956-T-C
gnomAD v3: 3-48576523-T-C
gnomAD v4: 3-48576523-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48576523T>C , CM000665.2:g.48576523T>C GRCh38
NC_000003.11:g.48613956T>C , CM000665.1:g.48613956T>C GRCh37
NC_000003.10:g.48588960T>C NCBI36
NG_007065.1:g.23730A>G , LRG_286:g.23730A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.5735A>G MANE Select ENSP00000506558.1:p.Lys1912Arg
ENST00000328333.12:c.5735A>G ENSP00000332371.8:p.Lys1912Arg
ENST00000487017.5:n.1652A>G
NM_000094.3:c.5735A>G , LRG_286t1:c.5735A>G NP_000085.1:p.Lys1912Arg
XM_011533336.1:c.5762A>G XP_011531638.1:p.Lys1921Arg
XM_011533337.1:c.5735A>G XP_011531639.1:p.Lys1912Arg
XM_011533338.1:c.5762A>G XP_011531640.1:p.Lys1921Arg
XM_011533339.1:c.5762A>G XP_011531641.1:p.Lys1921Arg
XM_011533340.1:c.5762A>G XP_011531642.1:p.Lys1921Arg
XM_011533341.1:c.5762A>G XP_011531643.1:p.Lys1921Arg
XM_011533342.1:c.5762A>G XP_011531644.1:p.Lys1921Arg
XR_940369.1:n.5798A>G
XR_940370.1:n.5798A>G
XR_940371.1:n.5798A>G
XR_940372.1:n.5798A>G
XR_940373.1:n.5798A>G
XR_940374.1:n.5798A>G
XR_940375.1:n.5798A>G
XM_017005688.1:c.5735A>G XP_016861177.1:p.Lys1912Arg
XM_017005689.1:c.5735A>G XP_016861178.1:p.Lys1912Arg
XM_017005690.1:c.5735A>G XP_016861179.1:p.Lys1912Arg
XM_017005691.1:c.5735A>G XP_016861180.1:p.Lys1912Arg
XM_017005692.1:c.5735A>G XP_016861181.1:p.Lys1912Arg
XR_001740003.1:n.5771A>G
XR_001740004.1:n.5771A>G
XR_001740005.1:n.5771A>G
XR_001740006.1:n.5771A>G
XR_001740007.1:n.5771A>G
XR_001740008.1:n.5771A>G
XR_001740009.1:n.5771A>G
NM_000094.4:c.5735A>G MANE Select NP_000085.1:p.Lys1912Arg