Canonical Allele Identifier: CA543045479
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs1249941706
gnomAD v2: 3-48607684-G-A
gnomAD v4: 3-48570251-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570251G>A , CM000665.2:g.48570251G>A GRCh38
NC_000003.11:g.48607684G>A , CM000665.1:g.48607684G>A GRCh37
NC_000003.10:g.48582688G>A NCBI36
NG_007065.1:g.30002C>T , LRG_286:g.30002C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7440+24C>T MANE Select ENSP00000506558.1:n.7440+24C>T
ENST00000328333.12:c.7440+24C>T ENSP00000332371.8:n.7440+24C>T
ENST00000422991.1:c.435+24C>T ENSP00000391608.1:n.435+24C>T
ENST00000459756.5:n.191C>T
ENST00000467985.1:n.214C>T
ENST00000487017.5:n.4079+24C>T
NM_000094.3:c.7440+24C>T , LRG_286t1:c.7440+24C>T NP_000085.1:n.7440+24C>T
XM_011533336.1:c.7467+24C>T XP_011531638.1:n.7467+24C>T
XM_011533337.1:c.7440+24C>T XP_011531639.1:n.7440+24C>T
XM_011533338.1:c.7408-73C>T XP_011531640.1:n.7408-73C>T
XM_011533339.1:c.7467+24C>T XP_011531641.1:n.7467+24C>T
XM_011533340.1:c.7409C>T XP_011531642.1:p.Pro2470Leu
XM_011533341.1:c.7383C>T XP_011531643.1:p.Ala2461=
XM_011533342.1:c.7382-73C>T XP_011531644.1:n.7382-73C>T
XR_940369.1:n.7503+24C>T
XR_940370.1:n.7503+24C>T
XR_940371.1:n.7503+24C>T
XR_940372.1:n.7477+24C>T
XM_017005688.1:c.7381-73C>T XP_016861177.1:n.7381-73C>T
XM_017005689.1:c.7440+24C>T XP_016861178.1:n.7440+24C>T
XM_017005690.1:c.7382C>T XP_016861179.1:p.Pro2461Leu
XM_017005691.1:c.7356C>T XP_016861180.1:p.Ala2452=
XM_017005692.1:c.7355-73C>T XP_016861181.1:n.7355-73C>T
XR_001740003.1:n.7476+24C>T
XR_001740004.1:n.7476+24C>T
XR_001740005.1:n.7476+24C>T
XR_001740006.1:n.7450+24C>T
NM_000094.4:c.7440+24C>T MANE Select NP_000085.1:n.7440+24C>T