Canonical Allele Identifier: CA352641247

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2782337
• ClinVar RCV Id: RCV003663908
• MyVariant Identifiers: chr3:g.48605154T>G (hg19) ; chr3:g.48567721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567721T>G , CM000665.2:g.48567721T>G	GRCh38
NC_000003.11:g.48605154T>G , CM000665.1:g.48605154T>G	GRCh37
NC_000003.10:g.48580158T>G	NCBI36
NG_007065.1:g.32532A>C , LRG_286:g.32532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7972A>C MANE Select	ENSP00000506558.1:p.Lys2658Gln
ENST00000328333.12:c.7972A>C	ENSP00000332371.8:p.Lys2658Gln
ENST00000459756.5:n.795A>C
ENST00000487017.5:n.4611A>C
NM_000094.3:c.7972A>C , LRG_286t1:c.7972A>C	NP_000085.1:p.Lys2658Gln
XM_011533336.1:c.7999A>C	XP_011531638.1:p.Lys2667Gln
XM_011533337.1:c.7972A>C	XP_011531639.1:p.Lys2658Gln
XM_011533338.1:c.7939A>C	XP_011531640.1:p.Lys2647Gln
XR_940369.1:n.8035A>C
XR_940370.1:n.8035A>C
XR_940371.1:n.8035A>C
XM_017005688.1:c.7912A>C	XP_016861177.1:p.Lys2638Gln
XR_001740003.1:n.8008A>C
XR_001740004.1:n.8008A>C
XR_001740005.1:n.8008A>C
NM_000094.4:c.7972A>C MANE Select	NP_000085.1:p.Lys2658Gln