Canonical Allele Identifier: CA2665618684

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567659-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567659T>G , CM000665.2:g.48567659T>G	GRCh38
NC_000003.11:g.48605092T>G , CM000665.1:g.48605092T>G	GRCh37
NC_000003.10:g.48580096T>G	NCBI36
NG_007065.1:g.32594A>C , LRG_286:g.32594A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-23A>C MANE Select	ENSP00000506558.1:n.7984-23A>C
ENST00000328333.12:c.7984-23A>C	ENSP00000332371.8:n.7984-23A>C
ENST00000487017.5:n.4623-23A>C
NM_000094.3:c.7984-23A>C , LRG_286t1:c.7984-23A>C	NP_000085.1:n.7984-23A>C
XM_011533336.1:c.8011-23A>C	XP_011531638.1:n.8011-23A>C
XM_011533337.1:c.7984-23A>C	XP_011531639.1:n.7984-23A>C
XM_011533338.1:c.7951-23A>C	XP_011531640.1:n.7951-23A>C
XR_940369.1:n.8047-23A>C
XR_940370.1:n.8047-23A>C
XR_940371.1:n.8047-23A>C
XM_017005688.1:c.7924-23A>C	XP_016861177.1:n.7924-23A>C
XR_001740003.1:n.8020-23A>C
XR_001740004.1:n.8020-23A>C
XR_001740005.1:n.8020-23A>C
NM_000094.4:c.7984-23A>C MANE Select	NP_000085.1:n.7984-23A>C