Canonical Allele Identifier: CA357479751

Gene: ADH4

Linked Data

• dbSNP Id: rs1279444296
• gnomAD v2: 4-100048408-G-A
• MyVariant Identifiers: chr4:g.100048408G>A (hg19) ; chr4:g.99127257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127257G>A , CM000666.2:g.99127257G>A	GRCh38
NC_000004.11:g.100048408G>A , CM000666.1:g.100048408G>A	GRCh37
NC_000004.10:g.100267431G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.931C>T MANE Select	ENSP00000265512.7:p.Pro311Ser
ENST00000265512.11:c.931C>T	ENSP00000265512.7:p.Pro311Ser
ENST00000505590.5:c.988C>T	ENSP00000425416.1:p.Pro330Ser
ENST00000506705.5:c.*905C>T	ENSP00000426667.1:n.*905C>T
ENST00000508393.5:c.988C>T	ENSP00000424630.1:p.Pro330Ser
ENST00000509471.5:c.334-525C>T	ENSP00000424583.1:n.334-525C>T
ENST00000629236.2:c.931C>T	ENSP00000486450.1:p.Pro311Ser
NM_000670.3:c.931C>T	NP_000661.2:p.Pro311Ser
NM_000670.4:c.931C>T	NP_000661.2:p.Pro311Ser
NM_001306171.1:c.988C>T	NP_001293100.1:p.Pro330Ser
NM_001306172.1:c.988C>T	NP_001293101.1:p.Pro330Ser
NR_037884.1:n.429-6298G>A
XR_938685.1:n.1159C>T
XR_938686.1:n.1150C>T
XR_938687.1:n.1023C>T
NM_000670.5:c.931C>T MANE Select	NP_000661.2:p.Pro311Ser
NM_001306171.2:c.988C>T	NP_001293100.1:p.Pro330Ser
NM_001306172.2:c.988C>T	NP_001293101.1:p.Pro330Ser