Canonical Allele Identifier: CA2554042
Gene: ARHGAP31 HGNC NCBI

Linked Data

dbSNP Id: rs541827684
ExAC: 3:119133225 C / G
gnomAD v2: 3-119133225-C-G
gnomAD v3: 3-119414378-C-G
gnomAD v4: 3-119414378-C-G
MyVariant Identifiers: chr3:g.119133225C>G (hg19) chr3:g.119414378C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414378C>G , CM000665.2:g.119414378C>G GRCh38
NC_000003.11:g.119133225C>G , CM000665.1:g.119133225C>G GRCh37
NC_000003.10:g.120615915C>G NCBI36
NG_007665.2:g.125006C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2449C>G MANE Select ENSP00000264245.4:p.Leu817Val
ENST00000264245.8:c.2449C>G ENSP00000264245.4:p.Leu817Val
NM_020754.3:c.2449C>G NP_065805.2:p.Leu817Val
XM_005247671.3:c.2356C>G XP_005247728.1:p.Leu786Val
XM_006713714.2:c.2389C>G XP_006713777.1:p.Leu797Val
XM_006713714.3:c.2389C>G XP_006713777.1:p.Leu797Val
XM_017006955.1:c.1957C>G XP_016862444.1:p.Leu653Val
NM_020754.4:c.2449C>G MANE Select NP_065805.2:p.Leu817Val
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