Canonical Allele Identifier: CA357498624

Gene: ADH7

Linked Data

• dbSNP Id: rs1244371989
• gnomAD v4: 4-99428524-C-T
• MyVariant Identifiers: chr4:g.100349681C>T (hg19) ; chr4:g.99428524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99428524C>T , CM000666.2:g.99428524C>T	GRCh38
NC_000004.11:g.100349681C>T , CM000666.1:g.100349681C>T	GRCh37
NC_000004.10:g.100568704C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000437033.7:c.227G>A MANE Select	ENSP00000414254.2:p.Ser76Asn
ENST00000209665.8:c.263G>A	ENSP00000209665.4:p.Ser88Asn
ENST00000437033.6:c.227G>A	ENSP00000414254.2:p.Ser76Asn
ENST00000474027.1:c.56G>A	ENSP00000420300.1:p.Ser19Asn
ENST00000476959.5:c.287G>A	ENSP00000420269.1:p.Ser96Asn
ENST00000482593.5:c.56G>A	ENSP00000420613.1:p.Ser19Asn
NM_000673.4:c.263G>A	NP_000664.2:p.Ser88Asn
NM_001166504.1:c.287G>A	NP_001159976.1:p.Ser96Asn
NM_000673.7:c.227G>A MANE Select	NP_000664.3:p.Ser76Asn
NM_001166504.2:c.287G>A	NP_001159976.1:p.Ser96Asn