Canonical Allele Identifier: CA258091

Linked Data

ClinVar Variation Id: 18074
dbSNP Id: rs121909536
COSMIC: COSM77260

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20693686A>T , CM000676.2:g.20693686A>T GRCh38
NC_000014.8:g.21161845A>T , CM000676.1:g.21161845A>T GRCh37
NC_000014.7:g.20231685A>T NCBI36
NG_008717.2:g.14510A>T , LRG_653:g.14510A>T
NG_033053.1:g.14474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397990.5:c.122A>T (ANG) MANE Select ENSP00000381077.4:p.Lys41Ile
ENST00000555835.3:c.-17-5669A>T (RNASE4) MANE Select ENSP00000452245.1:n.-17-5669A>T
ENST00000336811.10:c.122A>T (ANG) ENSP00000336762.6:p.Lys41Ile
ENST00000397990.4:c.122A>T (ANG) ENSP00000381077.4:p.Lys41Ile
ENST00000397995.2:c.-17-5669A>T (RNASE4) ENSP00000381081.2:n.-17-5669A>T
ENST00000553909.1:c.86+36A>T ENSP00000477037.1:n.86+36A>T
ENST00000554073.1:n.146-5180A>T (ANG)
ENST00000555597.1:c.-18+4812A>T (RNASE4) ENSP00000451624.1:n.-18+4812A>T
ENST00000555835.2:c.-17-5669A>T (RNASE4) ENSP00000452245.1:n.-17-5669A>T
NM_001097577.2:c.122A>T (ANG) NP_001091046.1:p.Lys41Ile
NM_001145.4:c.122A>T , LRG_653t1:c.122A>T (ANG) NP_001136.1:p.Lys41Ile
NM_001282192.1:c.-18+36A>T (RNASE4) NP_001269121.1:n.-18+36A>T
NM_001282193.1:c.-17-5669A>T (RNASE4) NP_001269122.1:n.-17-5669A>T
NM_002937.4:c.-17-5669A>T (RNASE4) NP_002928.1:n.-17-5669A>T
NM_194431.2:c.-18+4812A>T (RNASE4) NP_919412.1:n.-18+4812A>T
NM_002937.5:c.-17-5669A>T (RNASE4) MANE Select NP_002928.1:n.-17-5669A>T
NM_001097577.3:c.122A>T (ANG) MANE Select NP_001091046.1:p.Lys41Ile
NM_001282192.2:c.-18+36A>T (RNASE4) NP_001269121.1:n.-18+36A>T
NM_001282193.2:c.-17-5669A>T (RNASE4) NP_001269122.1:n.-17-5669A>T
NM_194431.3:c.-18+4812A>T (RNASE4) NP_919412.1:n.-18+4812A>T
NM_001385271.1:c.122A>T (ANG) NP_001372200.1:p.Lys41Ile
NM_001385272.1:c.122A>T (ANG) NP_001372201.1:p.Lys41Ile
NM_001385273.1:c.122A>T (ANG) NP_001372202.1:p.Lys41Ile
NM_001385274.1:c.122A>T (ANG) NP_001372203.1:p.Lys41Ile
NR_174964.1:n.530T>A (EGILA)