Canonical Allele Identifier: CA6311725

Gene: SLC37A4

Linked Data

• dbSNP Id: rs376569600
• ExAC: 11:118897372 C / A
• gnomAD v2: 11-118897372-C-A
• gnomAD v4: 11-119026662-C-A
• MyVariant Identifiers: chr11:g.118897372C>A (hg19) ; chr11:g.119026662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026662C>A , CM000673.2:g.119026662C>A	GRCh38
NC_000011.9:g.118897372C>A , CM000673.1:g.118897372C>A	GRCh37
NC_000011.8:g.118402582C>A	NCBI36
NG_013331.1:g.9244G>T , LRG_187:g.9244G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1014+275G>T
ENST00000697845.1:n.1213G>T
ENST00000697846.1:n.1014+275G>T
ENST00000697847.1:n.1041G>T
ENST00000697848.1:n.1041G>T
ENST00000697849.1:n.2328G>T
ENST00000697850.1:n.1041G>T
ENST00000697851.1:n.2649G>T
ENST00000638186.1:n.1115G>T
ENST00000638360.1:n.947G>T
ENST00000638925.1:n.1048G>T
ENST00000650539.1:n.1217G>T
ENST00000330775.9:c.811G>T	ENSP00000476242.2:p.Val271Phe
ENST00000357590.9:c.811G>T	ENSP00000476176.2:p.Val271Phe
ENST00000524428.5:n.1106+275G>T
ENST00000525039.5:n.1235G>T
ENST00000525102.5:n.1569G>T
ENST00000525372.5:n.812G>T
ENST00000526275.5:n.1593G>T
ENST00000527992.5:n.1039G>T
ENST00000529510.5:n.558+275G>T
ENST00000530407.5:n.961G>T
ENST00000532085.1:n.3670G>T
ENST00000538950.5:c.592G>T	ENSP00000475991.2:p.Val198Phe
ENST00000545985.5:c.811G>T	ENSP00000475241.2:p.Val271Phe
NM_001164277.1:c.811G>T , LRG_187t1:c.811G>T	NP_001157749.1:p.Val271Phe
NM_001164278.1:c.811G>T	NP_001157750.1:p.Val271Phe
NM_001164279.1:c.592G>T	NP_001157751.1:p.Val198Phe
NM_001164280.1:c.811G>T	NP_001157752.1:p.Val271Phe
NM_001467.5:c.811G>T	NP_001458.1:p.Val271Phe
NM_001164278.2:c.811G>T	NP_001157750.1:p.Val271Phe
NM_001164279.2:c.592G>T	NP_001157751.1:p.Val198Phe
NM_001164280.2:c.811G>T	NP_001157752.1:p.Val271Phe
NM_001467.6:c.811G>T	NP_001458.1:p.Val271Phe
NM_001164277.2:c.811G>T MANE Select	NP_001157749.1:p.Val271Phe