Canonical Allele Identifier: CA358523265
Gene: FGA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.154584385G>C
GRCh37 chr4:g.155505537G>C
Revel Score:
ENST00000302053 0.686
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154584385G>C , CM000666.2:g.154584385G>C GRCh38
NC_000004.11:g.155505537G>C , CM000666.1:g.155505537G>C GRCh37
NC_000004.10:g.155724987G>C NCBI36
NG_008832.1:g.11361C>G , LRG_557:g.11361C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651975.2:c.2340C>G ENSP00000498441.1:p.His780Gln
ENST00000651975.1:c.2340C>G ENSP00000498441.1:p.His780Gln
ENST00000302053.7:c.2340C>G ENSP00000306361.3:p.His780Gln
NM_000508.3:c.2340C>G , LRG_557t1:c.2340C>G NP_000499.1:p.His780Gln
NM_000508.4:c.2340C>G NP_000499.1:p.His780Gln
NM_000508.5:c.2340C>G NP_000499.1:p.His780Gln
Search 100 bp 5'
Search 100 bp 3'