Canonical Allele Identifier: CA2378500
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs533991505
gnomAD v2: 3-48607648-G-A
gnomAD v3: 3-48570215-G-A
gnomAD v4: 3-48570215-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570215G>A , CM000665.2:g.48570215G>A GRCh38
NC_000003.11:g.48607648G>A , CM000665.1:g.48607648G>A GRCh37
NC_000003.10:g.48582652G>A NCBI36
NG_007065.1:g.30038C>T , LRG_286:g.30038C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7441-37C>T MANE Select ENSP00000506558.1:n.7441-37C>T
ENST00000328333.12:c.7441-37C>T ENSP00000332371.8:n.7441-37C>T
ENST00000422991.1:c.436-37C>T ENSP00000391608.1:n.436-37C>T
ENST00000459756.5:n.227C>T
ENST00000467985.1:n.250C>T
ENST00000487017.5:n.4080-37C>T
NM_000094.3:c.7441-37C>T , LRG_286t1:c.7441-37C>T NP_000085.1:n.7441-37C>T
XM_011533336.1:c.7468-37C>T XP_011531638.1:n.7468-37C>T
XM_011533337.1:c.7441-37C>T XP_011531639.1:n.7441-37C>T
XM_011533338.1:c.7408-37C>T XP_011531640.1:n.7408-37C>T
XM_011533339.1:c.7468-37C>T XP_011531641.1:n.7468-37C>T
XM_011533340.1:c.*5C>T XP_011531642.1:n.*5C>T
XM_011533341.1:c.7419C>T XP_011531643.1:p.Ser2473=
XM_011533342.1:c.7382-37C>T XP_011531644.1:n.7382-37C>T
XR_940369.1:n.7504-37C>T
XR_940370.1:n.7504-37C>T
XR_940371.1:n.7504-37C>T
XR_940372.1:n.7478-37C>T
XM_017005688.1:c.7381-37C>T XP_016861177.1:n.7381-37C>T
XM_017005689.1:c.7441-37C>T XP_016861178.1:n.7441-37C>T
XM_017005690.1:c.*5C>T XP_016861179.1:n.*5C>T
XM_017005691.1:c.7392C>T XP_016861180.1:p.Ser2464=
XM_017005692.1:c.7355-37C>T XP_016861181.1:n.7355-37C>T
XR_001740003.1:n.7477-37C>T
XR_001740004.1:n.7477-37C>T
XR_001740005.1:n.7477-37C>T
XR_001740006.1:n.7451-37C>T
NM_000094.4:c.7441-37C>T MANE Select NP_000085.1:n.7441-37C>T