Canonical Allele Identifier: CA382897325

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 554872
• ClinVar RCV Id: RCV000670580
• dbSNP Id: rs1168556886
• gnomAD v4: 11-119025993-C-A
• MyVariant Identifiers: chr11:g.118896703C>A (hg19) ; chr11:g.119025993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025993C>A , CM000673.2:g.119025993C>A	GRCh38
NC_000011.9:g.118896703C>A , CM000673.1:g.118896703C>A	GRCh37
NC_000011.8:g.118401913C>A	NCBI36
NG_013331.1:g.9913G>T , LRG_187:g.9913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1102G>T
ENST00000697845.1:n.1882G>T
ENST00000697846.1:n.1102G>T
ENST00000697847.1:n.1202-236G>T
ENST00000697848.1:n.1188G>T
ENST00000697849.1:n.2997G>T
ENST00000697850.1:n.1188G>T
ENST00000697851.1:n.2796G>T
ENST00000638186.1:n.1262G>T
ENST00000638360.1:n.1094G>T
ENST00000638925.1:n.1227G>T
ENST00000650539.1:n.1364G>T
ENST00000330775.9:c.958G>T	ENSP00000476242.2:p.Val320Leu
ENST00000357590.9:c.958G>T	ENSP00000476176.2:p.Val320Leu
ENST00000524428.5:n.1194G>T
ENST00000525039.5:n.1382G>T
ENST00000525102.5:n.1716G>T
ENST00000525372.5:n.1056G>T
ENST00000526275.5:n.1740G>T
ENST00000527992.5:n.1186G>T
ENST00000529510.5:n.646G>T
ENST00000530407.5:n.1108G>T
ENST00000532085.1:n.4339G>T
ENST00000538950.5:c.739G>T	ENSP00000475991.2:p.Val247Leu
ENST00000545985.5:c.958G>T	ENSP00000475241.2:p.Val320Leu
NM_001164277.1:c.958G>T , LRG_187t1:c.958G>T	NP_001157749.1:p.Val320Leu
NM_001164278.1:c.958G>T	NP_001157750.1:p.Val320Leu
NM_001164279.1:c.739G>T	NP_001157751.1:p.Val247Leu
NM_001164280.1:c.958G>T	NP_001157752.1:p.Val320Leu
NM_001467.5:c.958G>T	NP_001458.1:p.Val320Leu
NM_001164278.2:c.958G>T	NP_001157750.1:p.Val320Leu
NM_001164279.2:c.739G>T	NP_001157751.1:p.Val247Leu
NM_001164280.2:c.958G>T	NP_001157752.1:p.Val320Leu
NM_001467.6:c.958G>T	NP_001458.1:p.Val320Leu
NM_001164277.2:c.958G>T MANE Select	NP_001157749.1:p.Val320Leu