Canonical Allele Identifier: CA352641839
Gene: COL7A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568108C>T , CM000665.2:g.48568108C>T GRCh38
NC_000003.11:g.48605541C>T , CM000665.1:g.48605541C>T GRCh37
NC_000003.10:g.48580545C>T NCBI36
NG_007065.1:g.32145G>A , LRG_286:g.32145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7857G>A MANE Select ENSP00000506558.1:p.Met2619Ile
ENST00000328333.12:c.7857G>A ENSP00000332371.8:p.Met2619Ile
ENST00000459756.5:n.680G>A
ENST00000487017.5:n.4496G>A
NM_000094.3:c.7857G>A , LRG_286t1:c.7857G>A NP_000085.1:p.Met2619Ile
XM_011533336.1:c.7884G>A XP_011531638.1:p.Met2628Ile
XM_011533337.1:c.7857G>A XP_011531639.1:p.Met2619Ile
XM_011533338.1:c.7824G>A XP_011531640.1:p.Met2608Ile
XR_940369.1:n.7920G>A
XR_940370.1:n.7920G>A
XR_940371.1:n.7920G>A
XM_017005688.1:c.7797G>A XP_016861177.1:p.Met2599Ile
XR_001740003.1:n.7893G>A
XR_001740004.1:n.7893G>A
XR_001740005.1:n.7893G>A
NM_000094.4:c.7857G>A MANE Select NP_000085.1:p.Met2619Ile