Canonical Allele Identifier: CA357478546

Gene: ADH4

Linked Data

• dbSNP Id: rs1312803978
• gnomAD v3: 4-99124449-A-T
• gnomAD v4: 4-99124449-A-T
• MyVariant Identifiers: chr4:g.100045600A>T (hg19) ; chr4:g.99124449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124449A>T , CM000666.2:g.99124449A>T	GRCh38
NC_000004.11:g.100045600A>T , CM000666.1:g.100045600A>T	GRCh37
NC_000004.10:g.100264623A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1136T>A MANE Select	ENSP00000265512.7:p.Ile379Asn
ENST00000265512.11:c.1136T>A	ENSP00000265512.7:p.Ile379Asn
ENST00000505590.5:c.1193T>A	ENSP00000425416.1:p.Ile398Asn
ENST00000508393.5:c.1193T>A	ENSP00000424630.1:p.Ile398Asn
ENST00000509471.5:c.490T>A	ENSP00000424583.1:n.490T>A
ENST00000629236.2:c.1136T>A	ENSP00000486450.1:p.Ile379Asn
NM_000670.3:c.1136T>A	NP_000661.2:p.Ile379Asn
NM_000670.4:c.1136T>A	NP_000661.2:p.Ile379Asn
NM_001306171.1:c.1193T>A	NP_001293100.1:p.Ile398Asn
NM_001306172.1:c.1193T>A	NP_001293101.1:p.Ile398Asn
NR_037884.1:n.429-9106A>T
XR_938685.1:n.1475T>A
XR_938686.1:n.1466T>A
XR_938687.1:n.1339T>A
NM_000670.5:c.1136T>A MANE Select	NP_000661.2:p.Ile379Asn
NM_001306171.2:c.1193T>A	NP_001293100.1:p.Ile398Asn
NM_001306172.2:c.1193T>A	NP_001293101.1:p.Ile398Asn