Canonical Allele Identifier: CA10614675

Gene: COL4A3 MFF-DT

Linked Data

• ClinVar Variation Id: 334766
• ClinVar RCV Id: RCV000289906 ; RCV001437377
• dbSNP Id: rs773021303
• gnomAD v4: 2-227277440-G-C
• MyVariant Identifiers: chr2:g.228142156G>C (hg19) ; chr2:g.227277440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227277440G>C , CM000664.2:g.227277440G>C	GRCh38
NC_000002.11:g.228142156G>C , CM000664.1:g.228142156G>C	GRCh37
NC_000002.10:g.227850400G>C	NCBI36
NG_011591.1:g.117876G>C , LRG_230:g.117876G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.2021-9G>C (COL4A3) MANE Select	ENSP00000379823.3:n.2021-9G>C
ENST00000396578.7:c.2021-9G>C (COL4A3)	ENSP00000379823.3:n.2021-9G>C
NM_000091.4:c.2021-9G>C , LRG_230t1:c.2021-9G>C (COL4A3)	NP_000082.2:n.2021-9G>C
NR_102371.1:n.422+2043C>G (MFF-DT)
XM_005246276.2:c.2021-9G>C (COL4A3)	XP_005246333.1:n.2021-9G>C
XM_005246277.2:c.2020+963G>C (COL4A3)	XP_005246334.1:n.2020+963G>C
XM_005246280.2:c.2021-9G>C (COL4A3)	XP_005246337.1:n.2021-9G>C
XM_006712245.2:c.2021-9G>C (COL4A3)	XP_006712308.1:n.2021-9G>C
XM_011510555.1:c.2021-9G>C (COL4A3)	XP_011508857.1:n.2021-9G>C
XM_011510556.1:c.782-9G>C (COL4A3)	XP_011508858.1:n.782-9G>C
XR_241280.2:n.2159-9G>C (COL4A3)
XM_005246277.3:c.2020+963G>C (COL4A3)	XP_005246334.1:n.2020+963G>C
XM_005246280.3:c.2021-9G>C (COL4A3)	XP_005246337.1:n.2021-9G>C
XM_006712245.3:c.2021-9G>C (COL4A3)	XP_006712308.1:n.2021-9G>C
XM_011510556.2:c.782-9G>C (COL4A3)	XP_011508858.1:n.782-9G>C
XM_017003295.1:c.2021-9G>C (COL4A3)	XP_016858784.1:n.2021-9G>C
XR_001738601.1:n.2159-9G>C (COL4A3)
XR_241280.3:n.2159-9G>C (COL4A3)
NM_000091.5:c.2021-9G>C (COL4A3) MANE Select	NP_000082.2:n.2021-9G>C