Canonical Allele Identifier: CA2663415031

Gene: COL4A3

Linked Data

• gnomAD v4: 2-227164709-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164709T>C , CM000664.2:g.227164709T>C	GRCh38
NC_000002.11:g.228029425T>C , CM000664.1:g.228029425T>C	GRCh37
NC_000002.10:g.227737669T>C	NCBI36
NG_011591.1:g.5145T>C , LRG_230:g.5145T>C
NG_011592.1:g.4851A>G , LRG_231:g.4851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.-18T>C MANE Select	ENSP00000379823.3:n.-18T>C
ENST00000396578.7:c.-18T>C	ENSP00000379823.3:n.-18T>C
NM_000091.4:c.-18T>C , LRG_230t1:c.-18T>C	NP_000082.2:n.-18T>C
XM_005246276.2:c.-18T>C	XP_005246333.1:n.-18T>C
XM_005246277.2:c.-18T>C	XP_005246334.1:n.-18T>C
XM_005246280.2:c.-18T>C	XP_005246337.1:n.-18T>C
XM_006712245.2:c.-18T>C	XP_006712308.1:n.-18T>C
XM_011510555.1:c.-18T>C	XP_011508857.1:n.-18T>C
XR_241280.2:n.121T>C
XM_005246277.3:c.-18T>C	XP_005246334.1:n.-18T>C
XM_005246280.3:c.-18T>C	XP_005246337.1:n.-18T>C
XM_006712245.3:c.-18T>C	XP_006712308.1:n.-18T>C
XM_017003295.1:c.-18T>C	XP_016858784.1:n.-18T>C
XR_001738601.1:n.121T>C
XR_241280.3:n.121T>C
NM_000091.5:c.-18T>C MANE Select	NP_000082.2:n.-18T>C