Canonical Allele Identifier: CA414132902
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695390A>C , CM000685.2:g.108695390A>C GRCh38
NC_000023.10:g.107938620A>C , CM000685.1:g.107938620A>C GRCh37
NC_000023.9:g.107825276A>C NCBI36
NG_011977.1:g.260467A>C
NG_011977.2:g.260467A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4945A>C MANE Select ENSP00000331902.7:p.Asn1649His
ENST00000361603.7:c.4927A>C ENSP00000354505.2:p.Asn1643His
ENST00000510690.2:n.1439A>C
ENST00000644079.1:n.1776A>C
ENST00000328300.10:c.4945A>C ENSP00000331902.6:p.Asn1649His
ENST00000361603.6:c.4927A>C ENSP00000354505.2:p.Asn1643His
ENST00000504541.1:c.219+469A>C ENSP00000424845.1:n.219+469A>C
ENST00000515658.1:c.325-907A>C
NM_000495.4:c.4927A>C NP_000486.1:p.Asn1643His
NM_033380.2:c.4945A>C NP_203699.1:p.Asn1649His
XM_005262070.2:c.4936A>C XP_005262127.1:p.Asn1646His
XM_006724616.2:c.4945A>C XP_006724679.1:p.Asn1649His
XM_011530849.1:c.4621A>C XP_011529151.1:p.Asn1541His
XM_011530851.1:c.2518A>C XP_011529153.1:p.Asn840His
XM_011530849.2:c.4960A>C XP_011529151.2:p.Asn1654His
XM_017029259.2:c.4951A>C XP_016884748.1:p.Asn1651His
XM_017029260.1:c.4942A>C XP_016884749.1:p.Asn1648His
XM_017029263.2:c.3280A>C XP_016884752.1:p.Asn1094His
NM_000495.5:c.4927A>C NP_000486.1:p.Asn1643His
NM_033380.3:c.4945A>C MANE Select NP_203699.1:p.Asn1649His