Canonical Allele Identifier: CA695029517

Gene: COL4A1

Linked Data

• dbSNP Id: rs1396301906
• gnomAD v3: 13-110166191-A-C
• gnomAD v4: 13-110166191-A-C
• MyVariant Identifiers: chr13:g.110818538A>C (hg19) ; chr13:g.110166191A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110166191A>C , CM000675.2:g.110166191A>C	GRCh38
NC_000013.10:g.110818538A>C , CM000675.1:g.110818538A>C	GRCh37
NC_000013.9:g.109616539A>C	NCBI36
NG_011544.2:g.145959T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.4021+41T>G MANE Select	ENSP00000364979.4:n.4021+41T>G
ENST00000650424.1:c.177+41T>G
ENST00000375820.8:c.4021+41T>G	ENSP00000364979.4:n.4021+41T>G
NM_001845.5:c.4021+41T>G	NP_001836.3:n.4021+41T>G
XM_011521048.1:c.3829+41T>G	XP_011519350.1:n.3829+41T>G
XM_011521048.2:c.3829+41T>G	XP_011519350.1:n.3829+41T>G
NM_001845.6:c.4021+41T>G MANE Select	NP_001836.3:n.4021+41T>G