Canonical Allele Identifier: CA2378494

Gene: COL7A1

Linked Data

• dbSNP Id: rs755042419
• ExAC: 3:48607596 G / T
• gnomAD v4: 3-48570163-G-T
• MyVariant Identifiers: chr3:g.48607596G>T (hg19) ; chr3:g.48570163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570163G>T , CM000665.2:g.48570163G>T	GRCh38
NC_000003.11:g.48607596G>T , CM000665.1:g.48607596G>T	GRCh37
NC_000003.10:g.48582600G>T	NCBI36
NG_007065.1:g.30090C>A , LRG_286:g.30090C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7456C>A MANE Select	ENSP00000506558.1:p.Pro2486Thr
ENST00000328333.12:c.7456C>A	ENSP00000332371.8:p.Pro2486Thr
ENST00000422991.1:c.451C>A	ENSP00000391608.1:p.Pro151Thr
ENST00000459756.5:n.279C>A
ENST00000467985.1:n.302C>A
ENST00000487017.5:n.4095C>A
NM_000094.3:c.7456C>A , LRG_286t1:c.7456C>A	NP_000085.1:p.Pro2486Thr
XM_011533336.1:c.7483C>A	XP_011531638.1:p.Pro2495Thr
XM_011533337.1:c.7456C>A	XP_011531639.1:p.Pro2486Thr
XM_011533338.1:c.7423C>A	XP_011531640.1:p.Pro2475Thr
XM_011533339.1:c.7483C>A	XP_011531641.1:p.Pro2495Thr
XM_011533340.1:c.*57C>A	XP_011531642.1:n.*57C>A
XM_011533341.1:c.*43C>A	XP_011531643.1:n.*43C>A
XM_011533342.1:c.*11C>A	XP_011531644.1:n.*11C>A
XR_940369.1:n.7519C>A
XR_940370.1:n.7519C>A
XR_940371.1:n.7519C>A
XR_940372.1:n.7493C>A
XM_017005688.1:c.7396C>A	XP_016861177.1:p.Pro2466Thr
XM_017005689.1:c.7456C>A	XP_016861178.1:p.Pro2486Thr
XM_017005690.1:c.*57C>A	XP_016861179.1:n.*57C>A
XM_017005691.1:c.*43C>A	XP_016861180.1:n.*43C>A
XM_017005692.1:c.*11C>A	XP_016861181.1:n.*11C>A
XR_001740003.1:n.7492C>A
XR_001740004.1:n.7492C>A
XR_001740005.1:n.7492C>A
XR_001740006.1:n.7466C>A
NM_000094.4:c.7456C>A MANE Select	NP_000085.1:p.Pro2486Thr