Canonical Allele Identifier: CA431500528

Gene: COL4A3

Linked Data

• dbSNP Id: rs542100614
• gnomAD v2: 2-228029487-G-C
• gnomAD v4: 2-227164771-G-C
• MyVariant Identifiers: chr2:g.228029487G>C (hg19) ; chr2:g.227164771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227164771G>C , CM000664.2:g.227164771G>C	GRCh38
NC_000002.11:g.228029487G>C , CM000664.1:g.228029487G>C	GRCh37
NC_000002.10:g.227737731G>C	NCBI36
NG_011591.1:g.5207G>C , LRG_230:g.5207G>C
NG_011592.1:g.4789C>G , LRG_231:g.4789C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.45G>C MANE Select	ENSP00000379823.3:p.Pro15=
ENST00000396578.7:c.45G>C	ENSP00000379823.3:p.Pro15=
NM_000091.4:c.45G>C , LRG_230t1:c.45G>C	NP_000082.2:p.Pro15=
XM_005246276.2:c.45G>C	XP_005246333.1:p.Pro15=
XM_005246277.2:c.45G>C	XP_005246334.1:p.Pro15=
XM_005246280.2:c.45G>C	XP_005246337.1:p.Pro15=
XM_006712245.2:c.45G>C	XP_006712308.1:p.Pro15=
XM_011510555.1:c.45G>C	XP_011508857.1:p.Pro15=
XR_241280.2:n.183G>C
XM_005246277.3:c.45G>C	XP_005246334.1:p.Pro15=
XM_005246280.3:c.45G>C	XP_005246337.1:p.Pro15=
XM_006712245.3:c.45G>C	XP_006712308.1:p.Pro15=
XM_017003295.1:c.45G>C	XP_016858784.1:p.Pro15=
XR_001738601.1:n.183G>C
XR_241280.3:n.183G>C
NM_000091.5:c.45G>C MANE Select	NP_000082.2:p.Pro15=