Canonical Allele Identifier: CA352642187

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043714058
• MyVariant Identifiers: chr3:g.48605943G>A (hg19) ; chr3:g.48568510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568510G>A , CM000665.2:g.48568510G>A	GRCh38
NC_000003.11:g.48605943G>A , CM000665.1:g.48605943G>A	GRCh37
NC_000003.10:g.48580947G>A	NCBI36
NG_007065.1:g.31743C>T , LRG_286:g.31743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7783C>T MANE Select	ENSP00000506558.1:p.Pro2595Ser
ENST00000328333.12:c.7783C>T	ENSP00000332371.8:p.Pro2595Ser
ENST00000459756.5:n.606C>T
ENST00000467985.1:n.629C>T
ENST00000487017.5:n.4422C>T
NM_000094.3:c.7783C>T , LRG_286t1:c.7783C>T	NP_000085.1:p.Pro2595Ser
XM_011533336.1:c.7810C>T	XP_011531638.1:p.Pro2604Ser
XM_011533337.1:c.7783C>T	XP_011531639.1:p.Pro2595Ser
XM_011533338.1:c.7750C>T	XP_011531640.1:p.Pro2584Ser
XM_011533339.1:c.7810C>T	XP_011531641.1:p.Pro2604Ser
XR_940369.1:n.7846C>T
XR_940370.1:n.7846C>T
XR_940371.1:n.7846C>T
XR_940372.1:n.7820C>T
XM_017005688.1:c.7723C>T	XP_016861177.1:p.Pro2575Ser
XM_017005689.1:c.7783C>T	XP_016861178.1:p.Pro2595Ser
XR_001740003.1:n.7819C>T
XR_001740004.1:n.7819C>T
XR_001740005.1:n.7819C>T
XR_001740006.1:n.7793C>T
NM_000094.4:c.7783C>T MANE Select	NP_000085.1:p.Pro2595Ser