Canonical Allele Identifier: CA352636395

Gene: COL7A1

Linked Data

• dbSNP Id: rs1277282472
• gnomAD v2: 3-48603727-C-T
• gnomAD v3: 3-48566294-C-T
• gnomAD v4: 3-48566294-C-T
• MyVariant Identifiers: chr3:g.48603727C>T (hg19) ; chr3:g.48566294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566294C>T , CM000665.2:g.48566294C>T	GRCh38
NC_000003.11:g.48603727C>T , CM000665.1:g.48603727C>T	GRCh37
NC_000003.10:g.48578731C>T	NCBI36
NG_007065.1:g.33959G>A , LRG_286:g.33959G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8380G>A MANE Select	ENSP00000506558.1:p.Val2794Met
ENST00000328333.12:c.8380G>A	ENSP00000332371.8:p.Val2794Met
ENST00000487017.5:n.5019G>A
NM_000094.3:c.8380G>A , LRG_286t1:c.8380G>A	NP_000085.1:p.Val2794Met
XM_011533336.1:c.8407G>A	XP_011531638.1:p.Val2803Met
XM_011533337.1:c.8380G>A	XP_011531639.1:p.Val2794Met
XM_011533338.1:c.8347G>A	XP_011531640.1:p.Val2783Met
XR_940369.1:n.8443G>A
XR_940370.1:n.8443G>A
XR_940371.1:n.8443G>A
XM_017005688.1:c.8320G>A	XP_016861177.1:p.Val2774Met
XR_001740003.1:n.8416G>A
XR_001740004.1:n.8416G>A
XR_001740005.1:n.8416G>A
NM_000094.4:c.8380G>A MANE Select	NP_000085.1:p.Val2794Met