Canonical Allele Identifier: CA368836012

Gene: SLC26A4

Linked Data

• COSMIC: COSM1177528
• MyVariant Identifiers: chr7:g.107323960A>C (hg19) ; chr7:g.107683515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107683515A>C , CM000669.2:g.107683515A>C	GRCh38
NC_000007.13:g.107323960A>C , CM000669.1:g.107323960A>C	GRCh37
NC_000007.12:g.107111196A>C	NCBI36
NG_008489.1:g.27881A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.979A>C MANE Select	ENSP00000494017.1:p.Ile327Leu
ENST00000265715.7:c.979A>C	ENSP00000265715.3:p.Ile327Leu
NM_000441.1:c.979A>C	NP_000432.1:p.Ile327Leu
XM_005250425.1:c.979A>C	XP_005250482.1:p.Ile327Leu
XM_006716025.2:c.979A>C	XP_006716088.1:p.Ile327Leu
XM_005250425.2:c.979A>C	XP_005250482.1:p.Ile327Leu
XM_006716025.3:c.979A>C	XP_006716088.1:p.Ile327Leu
XM_017012318.1:c.979A>C	XP_016867807.1:p.Ile327Leu
NM_000441.2:c.979A>C MANE Select	NP_000432.1:p.Ile327Leu