Canonical Allele Identifier: CA7047074
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs766927193
ExAC: 13:110818635 G / A
gnomAD v2: 13-110818635-G-A
gnomAD v4: 13-110166288-G-A
MyVariant Identifiers: chr13:g.110818635G>A (hg19) chr13:g.110166288G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166288G>A , CM000675.2:g.110166288G>A GRCh38
NC_000013.10:g.110818635G>A , CM000675.1:g.110818635G>A GRCh37
NC_000013.9:g.109616636G>A NCBI36
NG_011544.2:g.145862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3965C>T MANE Select ENSP00000364979.4:p.Pro1322Leu
ENST00000650424.1:c.121C>T
ENST00000375820.8:c.3965C>T ENSP00000364979.4:p.Pro1322Leu
NM_001845.5:c.3965C>T NP_001836.3:p.Pro1322Leu
XM_011521048.1:c.3773C>T XP_011519350.1:p.Pro1258Leu
XM_011521048.2:c.3773C>T XP_011519350.1:p.Pro1258Leu
NM_001845.6:c.3965C>T MANE Select NP_001836.3:p.Pro1322Leu
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