Canonical Allele Identifier: CA440304645
Gene: ADH4 HGNC NCBI

Linked Data

gnomAD v4: 4-99127213-A-G
MyVariant Identifiers: chr4:g.100048364A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99127213A>G , CM000666.2:g.99127213A>G GRCh38
NC_000004.11:g.100048364A>G , CM000666.1:g.100048364A>G GRCh37
NC_000004.10:g.100267387A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265512.12:c.975T>C MANE Select ENSP00000265512.7:p.Phe325=
ENST00000265512.11:c.975T>C ENSP00000265512.7:p.Phe325=
ENST00000505590.5:c.1032T>C ENSP00000425416.1:p.Phe344=
ENST00000506705.5:c.*949T>C ENSP00000426667.1:n.*949T>C
ENST00000508393.5:c.1032T>C ENSP00000424630.1:p.Phe344=
ENST00000509471.5:c.334-481T>C ENSP00000424583.1:n.334-481T>C
ENST00000629236.2:c.975T>C ENSP00000486450.1:p.Phe325=
NM_000670.3:c.975T>C NP_000661.2:p.Phe325=
NM_000670.4:c.975T>C NP_000661.2:p.Phe325=
NM_001306171.1:c.1032T>C NP_001293100.1:p.Phe344=
NM_001306172.1:c.1032T>C NP_001293101.1:p.Phe344=
NR_037884.1:n.429-6342A>G
XR_938685.1:n.1203T>C
XR_938686.1:n.1194T>C
XR_938687.1:n.1067T>C
NM_000670.5:c.975T>C MANE Select NP_000661.2:p.Phe325=
NM_001306171.2:c.1032T>C NP_001293100.1:p.Phe344=
NM_001306172.2:c.1032T>C NP_001293101.1:p.Phe344=