Canonical Allele Identifier: CA3018560

Gene: ADH4

Linked Data

• dbSNP Id: rs745959475
• ExAC: 4:100045564 G / A
• gnomAD v2: 4-100045564-G-A
• gnomAD v4: 4-99124413-G-A
• MyVariant Identifiers: chr4:g.100045564G>A (hg19) ; chr4:g.99124413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99124413G>A , CM000666.2:g.99124413G>A	GRCh38
NC_000004.11:g.100045564G>A , CM000666.1:g.100045564G>A	GRCh37
NC_000004.10:g.100264587G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.*29C>T MANE Select	ENSP00000265512.7:n.*29C>T
ENST00000265512.11:c.*29C>T	ENSP00000265512.7:n.*29C>T
ENST00000505590.5:c.*29C>T	ENSP00000425416.1:n.*29C>T
ENST00000508393.5:c.*29C>T	ENSP00000424630.1:n.*29C>T
ENST00000509471.5:c.526C>T	ENSP00000424583.1:n.526C>T
ENST00000629236.2:c.1169C>T	ENSP00000486450.1:p.Ser390Phe
NM_000670.3:c.*29C>T	NP_000661.2:n.*29C>T
NM_000670.4:c.*29C>T	NP_000661.2:n.*29C>T
NM_001306171.1:c.*29C>T	NP_001293100.1:n.*29C>T
NM_001306172.1:c.*29C>T	NP_001293101.1:n.*29C>T
NR_037884.1:n.429-9142G>A
XR_938685.1:n.1511C>T
XR_938686.1:n.1502C>T
XR_938687.1:n.1375C>T
NM_000670.5:c.*29C>T MANE Select	NP_000661.2:n.*29C>T
NM_001306171.2:c.*29C>T	NP_001293100.1:n.*29C>T
NM_001306172.2:c.*29C>T	NP_001293101.1:n.*29C>T