Canonical Allele Identifier: CA352641318

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043670988
• gnomAD v4: 3-48567739-G-A
• MyVariant Identifiers: chr3:g.48605172G>A (hg19) ; chr3:g.48567739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567739G>A , CM000665.2:g.48567739G>A	GRCh38
NC_000003.11:g.48605172G>A , CM000665.1:g.48605172G>A	GRCh37
NC_000003.10:g.48580176G>A	NCBI36
NG_007065.1:g.32514C>T , LRG_286:g.32514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7954C>T MANE Select	ENSP00000506558.1:p.Pro2652Ser
ENST00000328333.12:c.7954C>T	ENSP00000332371.8:p.Pro2652Ser
ENST00000459756.5:n.777C>T
ENST00000487017.5:n.4593C>T
NM_000094.3:c.7954C>T , LRG_286t1:c.7954C>T	NP_000085.1:p.Pro2652Ser
XM_011533336.1:c.7981C>T	XP_011531638.1:p.Pro2661Ser
XM_011533337.1:c.7954C>T	XP_011531639.1:p.Pro2652Ser
XM_011533338.1:c.7921C>T	XP_011531640.1:p.Pro2641Ser
XR_940369.1:n.8017C>T
XR_940370.1:n.8017C>T
XR_940371.1:n.8017C>T
XM_017005688.1:c.7894C>T	XP_016861177.1:p.Pro2632Ser
XR_001740003.1:n.7990C>T
XR_001740004.1:n.7990C>T
XR_001740005.1:n.7990C>T
NM_000094.4:c.7954C>T MANE Select	NP_000085.1:p.Pro2652Ser