Canonical Allele Identifier: CA127196
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17451
ClinVar RCV Id: RCV000019002
dbSNP Id: rs121912845

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48580301G>A , CM000665.2:g.48580301G>A GRCh38
NC_000003.11:g.48617734G>A , CM000665.1:g.48617734G>A GRCh37
NC_000003.10:g.48592738G>A NCBI36
NG_007065.1:g.19952C>T , LRG_286:g.19952C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.5096C>T MANE Select ENSP00000506558.1:p.Pro1699Leu
ENST00000328333.12:c.5096C>T ENSP00000332371.8:p.Pro1699Leu
NM_000094.3:c.5096C>T , LRG_286t1:c.5096C>T NP_000085.1:p.Pro1699Leu
XM_011533336.1:c.5123C>T XP_011531638.1:p.Pro1708Leu
XM_011533337.1:c.5096C>T XP_011531639.1:p.Pro1699Leu
XM_011533338.1:c.5123C>T XP_011531640.1:p.Pro1708Leu
XM_011533339.1:c.5123C>T XP_011531641.1:p.Pro1708Leu
XM_011533340.1:c.5123C>T XP_011531642.1:p.Pro1708Leu
XM_011533341.1:c.5123C>T XP_011531643.1:p.Pro1708Leu
XM_011533342.1:c.5123C>T XP_011531644.1:p.Pro1708Leu
XM_017005688.1:c.5096C>T XP_016861177.1:p.Pro1699Leu
XM_017005689.1:c.5096C>T XP_016861178.1:p.Pro1699Leu
XM_017005690.1:c.5096C>T XP_016861179.1:p.Pro1699Leu
XM_017005691.1:c.5096C>T XP_016861180.1:p.Pro1699Leu
XM_017005692.1:c.5096C>T XP_016861181.1:p.Pro1699Leu
NM_000094.4:c.5096C>T MANE Select NP_000085.1:p.Pro1699Leu