Canonical Allele Identifier: CA7046741

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1316354
• ClinVar RCV Id: RCV001766260 ; RCV003323929
• dbSNP Id: rs779139113
• ExAC: 13:110802750 G / A
• gnomAD v2: 13-110802750-G-A
• gnomAD v3: 13-110150403-G-A
• gnomAD v4: 13-110150403-G-A
• COSMIC: COSM5740009 ; COSM5740010
• MyVariant Identifiers: chr13:g.110802750G>A (hg19) ; chr13:g.110150403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110150403G>A , CM000675.2:g.110150403G>A	GRCh38
NC_000013.10:g.110802750G>A , CM000675.1:g.110802750G>A	GRCh37
NC_000013.9:g.109600751G>A	NCBI36
NG_011544.2:g.161747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.4970C>T MANE Select	ENSP00000364979.4:p.Thr1657Met
ENST00000649720.1:n.1138C>T
ENST00000650424.1:c.1120C>T
ENST00000375820.8:c.4970C>T	ENSP00000364979.4:p.Thr1657Met
NM_001845.5:c.4970C>T	NP_001836.3:p.Thr1657Met
XM_011521048.1:c.4778C>T	XP_011519350.1:p.Thr1593Met
XM_011521048.2:c.4778C>T	XP_011519350.1:p.Thr1593Met
NM_001845.6:c.4970C>T MANE Select	NP_001836.3:p.Thr1657Met