Canonical Allele Identifier: CA389116775

Gene: ANG RNASE4 EGILA

Linked Data

• ClinVar Variation Id: 2322998
• ClinVar RCV Id: RCV002920418
• dbSNP Id: rs1248531813
• gnomAD v2: 14-21162082-C-A
• gnomAD v3: 14-20693923-C-A
• gnomAD v4: 14-20693923-C-A
• MyVariant Identifiers: chr14:g.21162082C>A (hg19) ; chr14:g.20693923C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693923C>A , CM000676.2:g.20693923C>A	GRCh38
NC_000014.8:g.21162082C>A , CM000676.1:g.21162082C>A	GRCh37
NC_000014.7:g.20231922C>A	NCBI36
NG_008717.2:g.14747C>A , LRG_653:g.14747C>A
NG_033053.1:g.14711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.359C>A (ANG) MANE Select	ENSP00000381077.4:p.Ala120Asp
ENST00000555835.3:c.-17-5432C>A (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5432C>A
ENST00000336811.10:c.359C>A (ANG)	ENSP00000336762.6:p.Ala120Asp
ENST00000397990.4:c.359C>A (ANG)	ENSP00000381077.4:p.Ala120Asp
ENST00000397995.2:c.-17-5432C>A (RNASE4)	ENSP00000381081.2:n.-17-5432C>A
ENST00000553909.1:c.86+273C>A	ENSP00000477037.1:n.86+273C>A
ENST00000554073.1:n.146-4943C>A (ANG)
ENST00000555597.1:c.-18+5049C>A (RNASE4)	ENSP00000451624.1:n.-18+5049C>A
ENST00000555835.2:c.-17-5432C>A (RNASE4)	ENSP00000452245.1:n.-17-5432C>A
NM_001097577.2:c.359C>A (ANG)	NP_001091046.1:p.Ala120Asp
NM_001145.4:c.359C>A , LRG_653t1:c.359C>A (ANG)	NP_001136.1:p.Ala120Asp
NM_001282192.1:c.-18+273C>A (RNASE4)	NP_001269121.1:n.-18+273C>A
NM_001282193.1:c.-17-5432C>A (RNASE4)	NP_001269122.1:n.-17-5432C>A
NM_002937.4:c.-17-5432C>A (RNASE4)	NP_002928.1:n.-17-5432C>A
NM_194431.2:c.-18+5049C>A (RNASE4)	NP_919412.1:n.-18+5049C>A
NM_002937.5:c.-17-5432C>A (RNASE4) MANE Select	NP_002928.1:n.-17-5432C>A
NM_001097577.3:c.359C>A (ANG) MANE Select	NP_001091046.1:p.Ala120Asp
NM_001282192.2:c.-18+273C>A (RNASE4)	NP_001269121.1:n.-18+273C>A
NM_001282193.2:c.-17-5432C>A (RNASE4)	NP_001269122.1:n.-17-5432C>A
NM_194431.3:c.-18+5049C>A (RNASE4)	NP_919412.1:n.-18+5049C>A
NM_001385271.1:c.359C>A (ANG)	NP_001372200.1:p.Ala120Asp
NM_001385272.1:c.359C>A (ANG)	NP_001372201.1:p.Ala120Asp
NM_001385273.1:c.359C>A (ANG)	NP_001372202.1:p.Ala120Asp
NM_001385274.1:c.359C>A (ANG)	NP_001372203.1:p.Ala120Asp
NR_174964.1:n.467-174G>T (EGILA)