Canonical Allele Identifier: CA73973230

Gene: COL7A1

Linked Data

• dbSNP Id: rs1038658202
• gnomAD v4: 3-48568109-A-G
• COSMIC: COSM3767458
• MyVariant Identifiers: chr3:g.48605542A>G (hg19) ; chr3:g.48568109A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568109A>G , CM000665.2:g.48568109A>G	GRCh38
NC_000003.11:g.48605542A>G , CM000665.1:g.48605542A>G	GRCh37
NC_000003.10:g.48580546A>G	NCBI36
NG_007065.1:g.32144T>C , LRG_286:g.32144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7856T>C MANE Select	ENSP00000506558.1:p.Met2619Thr
ENST00000328333.12:c.7856T>C	ENSP00000332371.8:p.Met2619Thr
ENST00000459756.5:n.679T>C
ENST00000487017.5:n.4495T>C
NM_000094.3:c.7856T>C , LRG_286t1:c.7856T>C	NP_000085.1:p.Met2619Thr
XM_011533336.1:c.7883T>C	XP_011531638.1:p.Met2628Thr
XM_011533337.1:c.7856T>C	XP_011531639.1:p.Met2619Thr
XM_011533338.1:c.7823T>C	XP_011531640.1:p.Met2608Thr
XR_940369.1:n.7919T>C
XR_940370.1:n.7919T>C
XR_940371.1:n.7919T>C
XM_017005688.1:c.7796T>C	XP_016861177.1:p.Met2599Thr
XR_001740003.1:n.7892T>C
XR_001740004.1:n.7892T>C
XR_001740005.1:n.7892T>C
NM_000094.4:c.7856T>C MANE Select	NP_000085.1:p.Met2619Thr