Canonical Allele Identifier: CA2378229

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2909199
• ClinVar RCV Id: RCV003732108
• dbSNP Id: rs761910447
• ExAC: 3:48605162 G / A
• gnomAD v2: 3-48605162-G-A
• gnomAD v4: 3-48567729-G-A
• COSMIC: COSM4118220
• MyVariant Identifiers: chr3:g.48605162G>A (hg19) ; chr3:g.48567729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567729G>A , CM000665.2:g.48567729G>A	GRCh38
NC_000003.11:g.48605162G>A , CM000665.1:g.48605162G>A	GRCh37
NC_000003.10:g.48580166G>A	NCBI36
NG_007065.1:g.32524C>T , LRG_286:g.32524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7964C>T MANE Select	ENSP00000506558.1:p.Ala2655Val
ENST00000328333.12:c.7964C>T	ENSP00000332371.8:p.Ala2655Val
ENST00000459756.5:n.787C>T
ENST00000487017.5:n.4603C>T
NM_000094.3:c.7964C>T , LRG_286t1:c.7964C>T	NP_000085.1:p.Ala2655Val
XM_011533336.1:c.7991C>T	XP_011531638.1:p.Ala2664Val
XM_011533337.1:c.7964C>T	XP_011531639.1:p.Ala2655Val
XM_011533338.1:c.7931C>T	XP_011531640.1:p.Ala2644Val
XR_940369.1:n.8027C>T
XR_940370.1:n.8027C>T
XR_940371.1:n.8027C>T
XM_017005688.1:c.7904C>T	XP_016861177.1:p.Ala2635Val
XR_001740003.1:n.8000C>T
XR_001740004.1:n.8000C>T
XR_001740005.1:n.8000C>T
NM_000094.4:c.7964C>T MANE Select	NP_000085.1:p.Ala2655Val