Canonical Allele Identifier: CA357479397

Gene: ADH4

Linked Data

• gnomAD v4: 4-99126685-T-C
• MyVariant Identifiers: chr4:g.100047836T>C (hg19) ; chr4:g.99126685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99126685T>C , CM000666.2:g.99126685T>C	GRCh38
NC_000004.11:g.100047836T>C , CM000666.1:g.100047836T>C	GRCh37
NC_000004.10:g.100266859T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265512.12:c.1027A>G MANE Select	ENSP00000265512.7:p.Asn343Asp
ENST00000265512.11:c.1027A>G	ENSP00000265512.7:p.Asn343Asp
ENST00000505590.5:c.1084A>G	ENSP00000425416.1:p.Asn362Asp
ENST00000506705.5:c.*1001A>G	ENSP00000426667.1:n.*1001A>G
ENST00000508393.5:c.1084A>G	ENSP00000424630.1:p.Asn362Asp
ENST00000509471.5:c.381A>G	ENSP00000424583.1:n.381A>G
ENST00000629236.2:c.1027A>G	ENSP00000486450.1:p.Asn343Asp
NM_000670.3:c.1027A>G	NP_000661.2:p.Asn343Asp
NM_000670.4:c.1027A>G	NP_000661.2:p.Asn343Asp
NM_001306171.1:c.1084A>G	NP_001293100.1:p.Asn362Asp
NM_001306172.1:c.1084A>G	NP_001293101.1:p.Asn362Asp
NR_037884.1:n.429-6870T>C
XR_938685.1:n.1255A>G
XR_938686.1:n.1246A>G
XR_938687.1:n.1119A>G
NM_000670.5:c.1027A>G MANE Select	NP_000661.2:p.Asn343Asp
NM_001306171.2:c.1084A>G	NP_001293100.1:p.Asn362Asp
NM_001306172.2:c.1084A>G	NP_001293101.1:p.Asn362Asp