Canonical Allele Identifier: CA542789400

Gene: COL7A1

Linked Data

• dbSNP Id: rs1449761851
• gnomAD v2: 3-48607641-A-C
• gnomAD v4: 3-48570208-A-C
• MyVariant Identifiers: chr3:g.48607641A>C (hg19) ; chr3:g.48570208A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570208A>C , CM000665.2:g.48570208A>C	GRCh38
NC_000003.11:g.48607641A>C , CM000665.1:g.48607641A>C	GRCh37
NC_000003.10:g.48582645A>C	NCBI36
NG_007065.1:g.30045T>G , LRG_286:g.30045T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7441-30T>G MANE Select	ENSP00000506558.1:n.7441-30T>G
ENST00000328333.12:c.7441-30T>G	ENSP00000332371.8:n.7441-30T>G
ENST00000422991.1:c.436-30T>G	ENSP00000391608.1:n.436-30T>G
ENST00000459756.5:n.234T>G
ENST00000467985.1:n.257T>G
ENST00000487017.5:n.4080-30T>G
NM_000094.3:c.7441-30T>G , LRG_286t1:c.7441-30T>G	NP_000085.1:n.7441-30T>G
XM_011533336.1:c.7468-30T>G	XP_011531638.1:n.7468-30T>G
XM_011533337.1:c.7441-30T>G	XP_011531639.1:n.7441-30T>G
XM_011533338.1:c.7408-30T>G	XP_011531640.1:n.7408-30T>G
XM_011533339.1:c.7468-30T>G	XP_011531641.1:n.7468-30T>G
XM_011533340.1:c.*12T>G	XP_011531642.1:n.*12T>G
XM_011533341.1:c.7426T>G	XP_011531643.1:p.Ter2476Gly
XM_011533342.1:c.7382-30T>G	XP_011531644.1:n.7382-30T>G
XR_940369.1:n.7504-30T>G
XR_940370.1:n.7504-30T>G
XR_940371.1:n.7504-30T>G
XR_940372.1:n.7478-30T>G
XM_017005688.1:c.7381-30T>G	XP_016861177.1:n.7381-30T>G
XM_017005689.1:c.7441-30T>G	XP_016861178.1:n.7441-30T>G
XM_017005690.1:c.*12T>G	XP_016861179.1:n.*12T>G
XM_017005691.1:c.7399T>G	XP_016861180.1:p.Ter2467Gly
XM_017005692.1:c.7355-30T>G	XP_016861181.1:n.7355-30T>G
XR_001740003.1:n.7477-30T>G
XR_001740004.1:n.7477-30T>G
XR_001740005.1:n.7477-30T>G
XR_001740006.1:n.7451-30T>G
NM_000094.4:c.7441-30T>G MANE Select	NP_000085.1:n.7441-30T>G