Canonical Allele Identifier: CA352663524

Gene: COL7A1

Linked Data

• dbSNP Id: rs1185094278
• gnomAD v2: 3-48612891-G-A
• COSMIC: COSM4502141
• MyVariant Identifiers: chr3:g.48612891G>A (hg19) ; chr3:g.48575458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575458G>A , CM000665.2:g.48575458G>A	GRCh38
NC_000003.11:g.48612891G>A , CM000665.1:g.48612891G>A	GRCh37
NC_000003.10:g.48587895G>A	NCBI36
NG_007065.1:g.24795C>T , LRG_286:g.24795C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.6061C>T MANE Select	ENSP00000506558.1:p.Leu2021Phe
ENST00000328333.12:c.6061C>T	ENSP00000332371.8:p.Leu2021Phe
ENST00000487017.5:n.1978C>T
NM_000094.3:c.6061C>T , LRG_286t1:c.6061C>T	NP_000085.1:p.Leu2021Phe
XM_011533336.1:c.6088C>T	XP_011531638.1:p.Leu2030Phe
XM_011533337.1:c.6061C>T	XP_011531639.1:p.Leu2021Phe
XM_011533338.1:c.6088C>T	XP_011531640.1:p.Leu2030Phe
XM_011533339.1:c.6088C>T	XP_011531641.1:p.Leu2030Phe
XM_011533340.1:c.6088C>T	XP_011531642.1:p.Leu2030Phe
XM_011533341.1:c.6088C>T	XP_011531643.1:p.Leu2030Phe
XM_011533342.1:c.6088C>T	XP_011531644.1:p.Leu2030Phe
XR_940369.1:n.6124C>T
XR_940370.1:n.6124C>T
XR_940371.1:n.6124C>T
XR_940372.1:n.6124C>T
XR_940373.1:n.6124C>T
XR_940374.1:n.6124C>T
XR_940375.1:n.6124C>T
XM_017005688.1:c.6061C>T	XP_016861177.1:p.Leu2021Phe
XM_017005689.1:c.6061C>T	XP_016861178.1:p.Leu2021Phe
XM_017005690.1:c.6061C>T	XP_016861179.1:p.Leu2021Phe
XM_017005691.1:c.6061C>T	XP_016861180.1:p.Leu2021Phe
XM_017005692.1:c.6061C>T	XP_016861181.1:p.Leu2021Phe
XR_001740003.1:n.6097C>T
XR_001740004.1:n.6097C>T
XR_001740005.1:n.6097C>T
XR_001740006.1:n.6097C>T
XR_001740007.1:n.6097C>T
XR_001740008.1:n.6097C>T
XR_001740009.1:n.6097C>T
NM_000094.4:c.6061C>T MANE Select	NP_000085.1:p.Leu2021Phe