Canonical Allele Identifier: CA3018671

Gene: ADH4

Linked Data

• dbSNP Id: rs374197870
• ExAC: 4:100048479 C / A
• gnomAD v2: 4-100048479-C-A
• gnomAD v3: 4-99127328-C-A
• gnomAD v4: 4-99127328-C-A
• MyVariant Identifiers: chr4:g.100048479C>A (hg19) ; chr4:g.99127328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99127328C>A , CM000666.2:g.99127328C>A	GRCh38
NC_000004.11:g.100048479C>A , CM000666.1:g.100048479C>A	GRCh37
NC_000004.10:g.100267502C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.860G>T MANE Select	ENSP00000265512.7:p.Cys287Phe
ENST00000265512.11:c.860G>T	ENSP00000265512.7:p.Cys287Phe
ENST00000505590.5:c.917G>T	ENSP00000425416.1:p.Cys306Phe
ENST00000506705.5:c.*834G>T	ENSP00000426667.1:n.*834G>T
ENST00000508393.5:c.917G>T	ENSP00000424630.1:p.Cys306Phe
ENST00000509471.5:c.334-596G>T	ENSP00000424583.1:n.334-596G>T
ENST00000629236.2:c.860G>T	ENSP00000486450.1:p.Cys287Phe
NM_000670.3:c.860G>T	NP_000661.2:p.Cys287Phe
NM_000670.4:c.860G>T	NP_000661.2:p.Cys287Phe
NM_001306171.1:c.917G>T	NP_001293100.1:p.Cys306Phe
NM_001306172.1:c.917G>T	NP_001293101.1:p.Cys306Phe
NR_037884.1:n.429-6227C>A
XR_938685.1:n.1088G>T
XR_938686.1:n.1079G>T
XR_938687.1:n.952G>T
NM_000670.5:c.860G>T MANE Select	NP_000661.2:p.Cys287Phe
NM_001306171.2:c.917G>T	NP_001293100.1:p.Cys306Phe
NM_001306172.2:c.917G>T	NP_001293101.1:p.Cys306Phe