Canonical Allele Identifier: CA542789409

Gene: COL7A1

Linked Data

• dbSNP Id: rs1210730173
• gnomAD v2: 3-48607666-C-G
• gnomAD v3: 3-48570233-C-G
• gnomAD v4: 3-48570233-C-G
• MyVariant Identifiers: chr3:g.48607666C>G (hg19) ; chr3:g.48570233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570233C>G , CM000665.2:g.48570233C>G	GRCh38
NC_000003.11:g.48607666C>G , CM000665.1:g.48607666C>G	GRCh37
NC_000003.10:g.48582670C>G	NCBI36
NG_007065.1:g.30020G>C , LRG_286:g.30020G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+42G>C MANE Select	ENSP00000506558.1:n.7440+42G>C
ENST00000328333.12:c.7440+42G>C	ENSP00000332371.8:n.7440+42G>C
ENST00000422991.1:c.435+42G>C	ENSP00000391608.1:n.435+42G>C
ENST00000459756.5:n.209G>C
ENST00000467985.1:n.232G>C
ENST00000487017.5:n.4079+42G>C
NM_000094.3:c.7440+42G>C , LRG_286t1:c.7440+42G>C	NP_000085.1:n.7440+42G>C
XM_011533336.1:c.7467+42G>C	XP_011531638.1:n.7467+42G>C
XM_011533337.1:c.7440+42G>C	XP_011531639.1:n.7440+42G>C
XM_011533338.1:c.7408-55G>C	XP_011531640.1:n.7408-55G>C
XM_011533339.1:c.7467+42G>C	XP_011531641.1:n.7467+42G>C
XM_011533340.1:c.7427G>C	XP_011531642.1:p.Ser2476Thr
XM_011533341.1:c.7401G>C	XP_011531643.1:p.Gln2467His
XM_011533342.1:c.7382-55G>C	XP_011531644.1:n.7382-55G>C
XR_940369.1:n.7503+42G>C
XR_940370.1:n.7503+42G>C
XR_940371.1:n.7503+42G>C
XR_940372.1:n.7477+42G>C
XM_017005688.1:c.7381-55G>C	XP_016861177.1:n.7381-55G>C
XM_017005689.1:c.7440+42G>C	XP_016861178.1:n.7440+42G>C
XM_017005690.1:c.7400G>C	XP_016861179.1:p.Ser2467Thr
XM_017005691.1:c.7374G>C	XP_016861180.1:p.Gln2458His
XM_017005692.1:c.7355-55G>C	XP_016861181.1:n.7355-55G>C
XR_001740003.1:n.7476+42G>C
XR_001740004.1:n.7476+42G>C
XR_001740005.1:n.7476+42G>C
XR_001740006.1:n.7450+42G>C
NM_000094.4:c.7440+42G>C MANE Select	NP_000085.1:n.7440+42G>C