Canonical Allele Identifier: CA433532342

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48566292-C-A
• MyVariant Identifiers: chr3:g.48603725C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566292C>A , CM000665.2:g.48566292C>A	GRCh38
NC_000003.11:g.48603725C>A , CM000665.1:g.48603725C>A	GRCh37
NC_000003.10:g.48578729C>A	NCBI36
NG_007065.1:g.33961G>T , LRG_286:g.33961G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8382G>T MANE Select	ENSP00000506558.1:p.Val2794=
ENST00000328333.12:c.8382G>T	ENSP00000332371.8:p.Val2794=
ENST00000487017.5:n.5021G>T
NM_000094.3:c.8382G>T , LRG_286t1:c.8382G>T	NP_000085.1:p.Val2794=
XM_011533336.1:c.8409G>T	XP_011531638.1:p.Val2803=
XM_011533337.1:c.8382G>T	XP_011531639.1:p.Val2794=
XM_011533338.1:c.8349G>T	XP_011531640.1:p.Val2783=
XR_940369.1:n.8445G>T
XR_940370.1:n.8445G>T
XR_940371.1:n.8445G>T
XM_017005688.1:c.8322G>T	XP_016861177.1:p.Val2774=
XR_001740003.1:n.8418G>T
XR_001740004.1:n.8418G>T
XR_001740005.1:n.8418G>T
NM_000094.4:c.8382G>T MANE Select	NP_000085.1:p.Val2794=