Canonical Allele Identifier: CA10621647

Gene: SLC4A4

Linked Data

• ClinVar Variation Id: 349541
• ClinVar RCV Id: RCV000326814
• dbSNP Id: rs886059595
• MyVariant Identifiers: chr4:g.72316184A>C (hg19) ; chr4:g.71450467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71450467A>C , CM000666.2:g.71450467A>C	GRCh38
NC_000004.11:g.72316184A>C , CM000666.1:g.72316184A>C	GRCh37
NC_000004.10:g.72535048A>C	NCBI36
NG_012653.1:g.268182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698522.1:c.1228A>C	ENSP00000513771.1:p.Ile410Leu
ENST00000264485.11:c.1132A>C MANE Select	ENSP00000264485.5:p.Ile378Leu
ENST00000340595.4:c.1000A>C MANE Plus Clinical	ENSP00000344272.3:p.Ile334Leu
ENST00000649996.1:c.1132A>C	ENSP00000497468.1:p.Ile378Leu
ENST00000264485.9:c.1132A>C	ENSP00000264485.5:p.Ile378Leu
ENST00000340595.3:c.1000A>C	ENSP00000344272.3:p.Ile334Leu
ENST00000351898.10:c.1132A>C	ENSP00000307349.7:p.Ile378Leu
ENST00000425175.5:c.1132A>C	ENSP00000393557.1:p.Ile378Leu
ENST00000512686.5:c.1000A>C	ENSP00000422400.1:p.Ile334Leu
ENST00000514331.1:n.1061A>C
NM_001098484.2:c.1132A>C	NP_001091954.1:p.Ile378Leu
NM_001134742.1:c.1132A>C	NP_001128214.1:p.Ile378Leu
NM_003759.3:c.1000A>C	NP_003750.1:p.Ile334Leu
XM_011532390.1:c.574A>C	XP_011530692.1:p.Ile192Leu
XM_011532390.2:c.574A>C	XP_011530692.1:p.Ile192Leu
XM_017008792.1:c.907A>C	XP_016864281.1:p.Ile303Leu
XM_017008793.1:c.616A>C	XP_016864282.1:p.Ile206Leu
XM_024454267.1:c.1225A>C	XP_024310035.1:p.Ile409Leu
XM_024454268.1:c.1147A>C	XP_024310036.1:p.Ile383Leu
XM_024454269.1:c.1147A>C	XP_024310037.1:p.Ile383Leu
XM_024454270.1:c.1132A>C	XP_024310038.1:p.Ile378Leu
XM_024454271.1:c.1132A>C	XP_024310039.1:p.Ile378Leu
XM_024454272.1:c.1132A>C	XP_024310040.1:p.Ile378Leu
NM_001098484.3:c.1132A>C MANE Select	NP_001091954.1:p.Ile378Leu
NM_001134742.2:c.1132A>C	NP_001128214.1:p.Ile378Leu
NM_003759.4:c.1000A>C MANE Plus Clinical	NP_003750.1:p.Ile334Leu