Canonical Allele Identifier: CA477125757

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1147090
• ClinVar RCV Id: RCV001486497 ; RCV004037265
• dbSNP Id: rs1943586351
• gnomAD v3: 11-119026965-G-A
• gnomAD v4: 11-119026965-G-A
• MyVariant Identifiers: chr11:g.118897675G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026965G>A , CM000673.2:g.119026965G>A	GRCh38
NC_000011.9:g.118897675G>A , CM000673.1:g.118897675G>A	GRCh37
NC_000011.8:g.118402885G>A	NCBI36
NG_013331.1:g.8941C>T , LRG_187:g.8941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.986C>T
ENST00000697845.1:n.910C>T
ENST00000697846.1:n.986C>T
ENST00000697847.1:n.986C>T
ENST00000697848.1:n.986C>T
ENST00000697849.1:n.2025C>T
ENST00000697850.1:n.986C>T
ENST00000697851.1:n.2346C>T
ENST00000638186.1:n.1060C>T
ENST00000638360.1:n.892C>T
ENST00000638925.1:n.993C>T
ENST00000650539.1:n.1162C>T
ENST00000330775.9:c.756C>T	ENSP00000476242.2:p.Ile252=
ENST00000357590.9:c.756C>T	ENSP00000476176.2:p.Ile252=
ENST00000524428.5:n.1078C>T
ENST00000525039.5:n.1180C>T
ENST00000525102.5:n.1514C>T
ENST00000525372.5:n.757C>T
ENST00000526275.5:n.1538C>T
ENST00000526626.6:n.719C>T
ENST00000527992.5:n.984C>T
ENST00000529510.5:n.530C>T
ENST00000530407.5:n.906C>T
ENST00000532085.1:n.3367C>T
ENST00000532888.6:n.1052C>T
ENST00000538950.5:c.537C>T	ENSP00000475991.2:p.Ile179=
ENST00000545985.5:c.756C>T	ENSP00000475241.2:p.Ile252=
NM_001164277.1:c.756C>T , LRG_187t1:c.756C>T	NP_001157749.1:p.Ile252=
NM_001164278.1:c.756C>T	NP_001157750.1:p.Ile252=
NM_001164279.1:c.537C>T	NP_001157751.1:p.Ile179=
NM_001164280.1:c.756C>T	NP_001157752.1:p.Ile252=
NM_001467.5:c.756C>T	NP_001458.1:p.Ile252=
NM_001164278.2:c.756C>T	NP_001157750.1:p.Ile252=
NM_001164279.2:c.537C>T	NP_001157751.1:p.Ile179=
NM_001164280.2:c.756C>T	NP_001157752.1:p.Ile252=
NM_001467.6:c.756C>T	NP_001458.1:p.Ile252=
NM_001164277.2:c.756C>T MANE Select	NP_001157749.1:p.Ile252=