Canonical Allele Identifier: CA389112595

Gene: ANG RNASE4 EGILA

Linked Data

• gnomAD v4: 14-20693607-G-C
• MyVariant Identifiers: chr14:g.21161766G>C (hg19) ; chr14:g.20693607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693607G>C , CM000676.2:g.20693607G>C	GRCh38
NC_000014.8:g.21161766G>C , CM000676.1:g.21161766G>C	GRCh37
NC_000014.7:g.20231606G>C	NCBI36
NG_008717.2:g.14431G>C , LRG_653:g.14431G>C
NG_033053.1:g.14395G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397990.5:c.43G>C (ANG) MANE Select	ENSP00000381077.4:p.Gly15Arg
ENST00000555835.3:c.-17-5748G>C (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5748G>C
ENST00000336811.10:c.43G>C (ANG)	ENSP00000336762.6:p.Gly15Arg
ENST00000397990.4:c.43G>C (ANG)	ENSP00000381077.4:p.Gly15Arg
ENST00000397995.2:c.-17-5748G>C (RNASE4)	ENSP00000381081.2:n.-17-5748G>C
ENST00000553909.1:c.43G>C	ENSP00000477037.1:p.Gly15Arg
ENST00000554073.1:n.146-5259G>C (ANG)
ENST00000555597.1:c.-18+4733G>C (RNASE4)	ENSP00000451624.1:n.-18+4733G>C
ENST00000555835.2:c.-17-5748G>C (RNASE4)	ENSP00000452245.1:n.-17-5748G>C
NM_001097577.2:c.43G>C (ANG)	NP_001091046.1:p.Gly15Arg
NM_001145.4:c.43G>C , LRG_653t1:c.43G>C (ANG)	NP_001136.1:p.Gly15Arg
NM_001282192.1:c.-61G>C (RNASE4)	NP_001269121.1:n.-61G>C
NM_001282193.1:c.-17-5748G>C (RNASE4)	NP_001269122.1:n.-17-5748G>C
NM_002937.4:c.-17-5748G>C (RNASE4)	NP_002928.1:n.-17-5748G>C
NM_194431.2:c.-18+4733G>C (RNASE4)	NP_919412.1:n.-18+4733G>C
NM_002937.5:c.-17-5748G>C (RNASE4) MANE Select	NP_002928.1:n.-17-5748G>C
NM_001097577.3:c.43G>C (ANG) MANE Select	NP_001091046.1:p.Gly15Arg
NM_001282192.2:c.-61G>C (RNASE4)	NP_001269121.1:n.-61G>C
NM_001282193.2:c.-17-5748G>C (RNASE4)	NP_001269122.1:n.-17-5748G>C
NM_194431.3:c.-18+4733G>C (RNASE4)	NP_919412.1:n.-18+4733G>C
NM_001385271.1:c.43G>C (ANG)	NP_001372200.1:p.Gly15Arg
NM_001385272.1:c.43G>C (ANG)	NP_001372201.1:p.Gly15Arg
NM_001385273.1:c.43G>C (ANG)	NP_001372202.1:p.Gly15Arg
NM_001385274.1:c.43G>C (ANG)	NP_001372203.1:p.Gly15Arg
NR_174964.1:n.609C>G (EGILA)